Original source

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

C/G/T | Ancestral: C | Ambiguity code: B | MAF: < 0.01 (T)

Chromosome 11:116837053 (forward strand) | View in location tab


with HGMD-PUBLIC CM900016

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 28 HGVS names - Show

About this variant

This variant overlaps 20 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays