Original source

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

C/T | Ancestral: T | Ambiguity code: Y | MAF: 0.11 (C)

Chromosome 4:148436323 (forward strand) | View in location tab


with HGMD-PUBLIC CM030066

Most severe consequence
Missense variant
Evidence status


This variant has 2 synonyms - Show

HGVS names

This variant has 13 HGVS names - Show

Genotyping chips

This variant has assays on 13 chips - Show

About this variant

This variant overlaps 6 transcripts, has 6313 sample genotypes and is mentioned in 17 citations.

Variant displays