Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

C/A/G | Ancestral: C | Ambiguity code: V | MAF: < 0.01 (G)

Chromosome 16:177040 (forward strand) | View in location tab


with HGMD-PUBLIC CM940889

Most severe consequence
Missense variant
Evidence status


This variant has 3 synonyms - Show

HGVS names

This variant has 14 HGVS names - Show

About this variant

This variant overlaps 20 transcripts, 1 regulatory feature, has 2504 sample genotypes and is mentioned in 5 citations.

Variant displays