Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 13 HGVS names - click the plus to 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