Original source

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

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

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


with HGMD-PUBLIC CM022058

Most severe consequence
Missense variant
Evidence status

Clinical significance


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