Original source

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

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

Chromosome 3:128806576 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM030707 ; PhenCode IPNMDB_636 (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 13 HGVS names - Show

About this variant

This variant overlaps 8 transcripts, 1 regulatory feature, is associated with 4 phenotypes and is mentioned in 2 citations.

Variant displays