Original source

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

Alleles
G/T|Ancestral: G|Ambiguity code: K
Location

Chromosome 14:73170974 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM022058

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, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays