---
-
allele_string: C/A/G/T
assembly_name: GRCh37
colocated_variants:
-
allele_string: HGMD_MUTATION
end: 56548501
id: CM012900
phenotype_or_disease: 1
seq_region_name: 16
start: 56548501
strand: 1
-
allele_string: C/A/G/T
clin_sig:
- benign
- pathogenic
clin_sig_allele: T:benign
end: 56548501
frequencies:
T:
af: '0.9964'
afr: '0.9985'
amr: '0.9986'
eas: 1
eur: '0.9911'
gnomade: '0.9941'
gnomade_afr: '0.9985'
gnomade_amr: '0.9958'
gnomade_asj: '0.9952'
gnomade_eas: '0.9999'
gnomade_fin: '0.9997'
gnomade_nfe: '0.9923'
gnomade_oth: '0.9905'
gnomade_sas: '0.9896'
sas: '0.9939'
id: rs4784677
phenotype_or_disease: 1
pubmed:
- 29334895
- 18974877
- 25007332
- 11567139
- 23559858
- 26147798
- 31850058
- 25780760
- 36672825
- 29681516
- 33374679
seq_region_name: 16
start: 56548501
strand: 1
var_synonyms:
ClinVar:
- RCV000004838
- VCV000004576
- RCV000860491
- RCV000710724
- RCV000301991
- VCV000285261
- RCV001081362
- RCV000989606
- RCV001553955
OMIM:
- '606151.0013'
UniProt:
- VAR_013162
end: 56548501
id: rs4784677
input: rs4784677
most_severe_consequence: missense_variant
seq_region_name: 16
start: 56548501
strand: 1
transcript_consequences:
-
amino_acids: S/I
biotype: protein_coding
cdna_end: 630
cdna_start: 630
cds_end: 209
cds_start: 209
codons: aGc/aTc
consequence_terms:
- missense_variant
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODERATE
polyphen_prediction: benign
polyphen_score: '0.24'
protein_end: 70
protein_start: 70
sift_prediction: deleterious
sift_score: 0
strand: -1
transcript_id: ENST00000245157
variant_allele: A
-
amino_acids: S/T
biotype: protein_coding
cdna_end: 630
cdna_start: 630
cds_end: 209
cds_start: 209
codons: aGc/aCc
consequence_terms:
- missense_variant
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODERATE
polyphen_prediction: benign
polyphen_score: '0.009'
protein_end: 70
protein_start: 70
sift_prediction: tolerated
sift_score: '0.1'
strand: -1
transcript_id: ENST00000245157
variant_allele: G
-
amino_acids: S/N
biotype: protein_coding
cdna_end: 630
cdna_start: 630
cds_end: 209
cds_start: 209
codons: aGc/aAc
consequence_terms:
- missense_variant
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 70
protein_start: 70
sift_prediction: tolerated
sift_score: 1
strand: -1
transcript_id: ENST00000245157
variant_allele: T
-
biotype: processed_transcript
consequence_terms:
- upstream_gene_variant
distance: 3311
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000561951
variant_allele: A
-
biotype: processed_transcript
consequence_terms:
- upstream_gene_variant
distance: 3311
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000561951
variant_allele: G
-
biotype: processed_transcript
consequence_terms:
- upstream_gene_variant
distance: 3311
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000561951
variant_allele: T
-
biotype: nonsense_mediated_decay
consequence_terms:
- upstream_gene_variant
distance: 4600
flags:
- cds_start_NF
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000562012
variant_allele: A
-
biotype: nonsense_mediated_decay
consequence_terms:
- upstream_gene_variant
distance: 4600
flags:
- cds_start_NF
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000562012
variant_allele: G
-
biotype: nonsense_mediated_decay
consequence_terms:
- upstream_gene_variant
distance: 4600
flags:
- cds_start_NF
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000562012
variant_allele: T
-
biotype: processed_transcript
cdna_end: 192
cdna_start: 192
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000565378
variant_allele: A
-
biotype: processed_transcript
cdna_end: 192
cdna_start: 192
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000565378
variant_allele: G
-
biotype: processed_transcript
cdna_end: 192
cdna_start: 192
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000565378
variant_allele: T
-
biotype: retained_intron
cdna_end: 223
cdna_start: 223
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000565781
variant_allele: A
-
biotype: retained_intron
cdna_end: 223
cdna_start: 223
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000565781
variant_allele: G
-
biotype: retained_intron
cdna_end: 223
cdna_start: 223
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000565781
variant_allele: T
-
biotype: retained_intron
consequence_terms:
- upstream_gene_variant
distance: 4622
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000565859
variant_allele: A
-
biotype: retained_intron
consequence_terms:
- upstream_gene_variant
distance: 4622
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000565859
variant_allele: G
-
biotype: retained_intron
consequence_terms:
- upstream_gene_variant
distance: 4622
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000565859
variant_allele: T
-
biotype: processed_transcript
cdna_end: 200
cdna_start: 200
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000566689
variant_allele: A
-
biotype: processed_transcript
cdna_end: 200
cdna_start: 200
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000566689
variant_allele: G
-
biotype: processed_transcript
cdna_end: 200
cdna_start: 200
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000566689
variant_allele: T
-
amino_acids: S/I
biotype: protein_coding
cdna_end: 388
cdna_start: 388
cds_end: 209
cds_start: 209
codons: aGc/aTc
consequence_terms:
- missense_variant
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODERATE
polyphen_prediction: benign
polyphen_score: '0.058'
protein_end: 70
protein_start: 70
sift_prediction: deleterious
sift_score: 0
strand: -1
transcript_id: ENST00000568104
variant_allele: A
-
amino_acids: S/T
biotype: protein_coding
cdna_end: 388
cdna_start: 388
cds_end: 209
cds_start: 209
codons: aGc/aCc
consequence_terms:
- missense_variant
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODERATE
polyphen_prediction: benign
polyphen_score: '0.003'
protein_end: 70
protein_start: 70
sift_prediction: tolerated
sift_score: '0.09'
strand: -1
transcript_id: ENST00000568104
variant_allele: G
-
amino_acids: S/N
biotype: protein_coding
cdna_end: 388
cdna_start: 388
cds_end: 209
cds_start: 209
codons: aGc/aAc
consequence_terms:
- missense_variant
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 70
protein_start: 70
sift_prediction: tolerated
sift_score: 1
strand: -1
transcript_id: ENST00000568104
variant_allele: T
-
biotype: retained_intron
cdna_end: 343
cdna_start: 343
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000569342
variant_allele: A
-
biotype: retained_intron
cdna_end: 343
cdna_start: 343
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000569342
variant_allele: G
-
biotype: retained_intron
cdna_end: 343
cdna_start: 343
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000569342
variant_allele: T
-
biotype: protein_coding
cdna_end: 161
cdna_start: 161
consequence_terms:
- 5_prime_UTR_variant
flags:
- cds_end_NF
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000569941
variant_allele: A
-
biotype: protein_coding
cdna_end: 161
cdna_start: 161
consequence_terms:
- 5_prime_UTR_variant
flags:
- cds_end_NF
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000569941
variant_allele: G
-
biotype: protein_coding
cdna_end: 161
cdna_start: 161
consequence_terms:
- 5_prime_UTR_variant
flags:
- cds_end_NF
gene_id: ENSG00000125124
gene_symbol: BBS2
gene_symbol_source: HGNC
hgnc_id: 967
impact: MODIFIER
strand: -1
transcript_id: ENST00000569941
variant_allele: T