Original source

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

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

Chromosome 14:73170963 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM043330

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 35 HGVS names - Show

About this variant

This variant overlaps 22 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays