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 5:132867015 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM081849

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 10 HGVS names - click the plus to show

About this variant

This variant overlaps 13 transcripts, 1 regulatory feature, has 1 sample genotype and is associated with 3 phenotypes.

Variant displays