Original source

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

T/C | Ancestral: T | Ambiguity code: Y

Chromosome 3:46859511 (forward strand) | View in location tab


with HGMD-PUBLIC CM961007 ; PhenCode FHC0330 (T/C)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 4 transcripts, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays