Original source

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

C/T | Ancestral: C | Ambiguity code: Y

Chromosome 12:57766073 (forward strand) | View in location tab


with HGMD-PUBLIC CM980508

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 15 transcripts, 1 regulatory feature, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays