Original source

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

A/G/T | Ancestral: A | Ambiguity code: D

Chromosome 15:63060915 (forward strand) | View in location tab


with HGMD-PUBLIC CM941334, CM002641 ; PhenCode FHC0624 (A/T), FHC0623 (A/G)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 6 synonyms - Show

HGVS names

This variant has 86 HGVS names - Show

About this variant

This variant overlaps 64 transcripts, is associated with 4 phenotypes and is mentioned in 3 citations.

Variant displays