Original source

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

C/A/T | Ancestral: C | Ambiguity code: H

Chromosome 3:46859495 (forward strand) | View in location tab


with COSMIC COSM1423463 (C/T) ; HGMD-PUBLIC CM961008 ; PhenCode FHC0335 (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 16 HGVS names - Show

About this variant

This variant overlaps 8 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays