Original source

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

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

Chromosome 4:154568456 (forward strand) | View in location tab


with HGMD-PUBLIC CM025213

Most severe consequence
Missense variant
Evidence status


This variant has 3 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 7 transcripts, has 2821 sample genotypes and is mentioned in 1 citation.

Variant displays