---
-
allele_string: A/C
assembly_name: GRCh37
colocated_variants:
-
allele_string: HGMD_MUTATION
end: 230845794
id: CM920010
phenotype_or_disease: 1
seq_region_name: 1
start: 230845794
strand: 1
-
allele_string: COSMIC_MUTATION
end: 230845794
id: COSV64184214
phenotype_or_disease: 1
seq_region_name: 1
somatic: 1
start: 230845794
strand: 1
var_synonyms:
COSMIC:
- COSM425562
end: 230845794
id: 1_230845794_A/C
input: 1 230845794 230845794 A/C 1
most_severe_consequence: missense_variant
seq_region_name: 1
start: 230845794
strand: 1
transcript_consequences:
-
amino_acids: M/R
biotype: protein_coding
cdna_end: 1018
cdna_start: 1018
cds_end: 803
cds_start: 803
codons: aTg/aGg
consequence_terms:
- missense_variant
gene_id: ENSG00000135744
gene_symbol: AGT
gene_symbol_source: HGNC
hgnc_id: 333
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 268
protein_start: 268
sift_prediction: tolerated
sift_score: '0.06'
strand: -1
transcript_id: ENST00000366667
variant_allele: C
-
biotype: antisense
consequence_terms:
- downstream_gene_variant
distance: 650
gene_id: ENSG00000244137
gene_symbol: RP11-99J16__A.2
gene_symbol_source: Clone_based_vega_gene
impact: MODIFIER
strand: -1
transcript_id: ENST00000412344
variant_allele: C