---
-
allele_string: A/C
assembly_name: GRCh37
colocated_variants:
-
allele_string: A/C
end: 30163533
id: rs2147244785
seq_region_name: 22
start: 30163533
strand: 1
end: 30163533
id: 22_30163533_A/C
input: 22 30163533 30163533 A/C 1
most_severe_consequence: missense_variant
seq_region_name: 22
start: 30163533
strand: 1
transcript_consequences:
-
amino_acids: E/A
biotype: protein_coding
cdna_end: 176
cdna_start: 176
cds_end: 146
cds_start: 146
codons: gAg/gCg
consequence_terms:
- missense_variant
gene_id: ENSG00000184076
gene_symbol: UQCR10
gene_symbol_source: HGNC
hgnc_id: 30863
impact: MODERATE
polyphen_prediction: benign
polyphen_score: '0.174'
protein_end: 49
protein_start: 49
sift_prediction: deleterious
sift_score: '0.03'
strand: 1
transcript_id: ENST00000330029
variant_allele: C
-
biotype: protein_coding
consequence_terms:
- upstream_gene_variant
distance: 583
gene_id: ENSG00000100319
gene_symbol: ZMAT5
gene_symbol_source: HGNC
hgnc_id: 28046
impact: MODIFIER
strand: -1
transcript_id: ENST00000344318
variant_allele: C
-
biotype: protein_coding
consequence_terms:
- upstream_gene_variant
distance: 564
gene_id: ENSG00000100319
gene_symbol: ZMAT5
gene_symbol_source: HGNC
hgnc_id: 28046
impact: MODIFIER
strand: -1
transcript_id: ENST00000397781
variant_allele: C
-
amino_acids: E/A
biotype: protein_coding
cdna_end: 171
cdna_start: 171
cds_end: 146
cds_start: 146
codons: gAg/gCg
consequence_terms:
- missense_variant
gene_id: ENSG00000184076
gene_symbol: UQCR10
gene_symbol_source: HGNC
hgnc_id: 30863
impact: MODERATE
polyphen_prediction: benign
polyphen_score: '0.059'
protein_end: 49
protein_start: 49
sift_prediction: tolerated
sift_score: '0.05'
strand: 1
transcript_id: ENST00000401406
variant_allele: C
-
biotype: retained_intron
consequence_terms:
- upstream_gene_variant
distance: 533
gene_id: ENSG00000100319
gene_symbol: ZMAT5
gene_symbol_source: HGNC
hgnc_id: 28046
impact: MODIFIER
strand: -1
transcript_id: ENST00000489010
variant_allele: C