Original source

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

C/A/T | Ancestral: C | Ambiguity code: H | MAF: < 0.01 (A)

Chromosome 14:24258646 (forward strand) | View in location tab


with HGMD-PUBLIC CM971481, CM091321

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 12 HGVS names - Show

About this variant

This variant overlaps 18 transcripts, has 2504 sample genotypes and is associated with 4 phenotypes.

Variant displays