Original source

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

T/C | Ancestral: C | Ambiguity code: Y | MAF: 0.43 (T)

Chromosome 4:38798089 (forward strand) | View in location tab


with HGMD-PUBLIC CM094340

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on 10 chips - Show

About this variant

This variant overlaps 10 transcripts, has 4078 sample genotypes, is associated with 3 phenotypes and is mentioned in 43 citations.

Variant displays