This variant has been flagged

Variation has more than 3 different alleles

Original source

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

A/C/G/T | Ancestral: A | Ambiguity code: N

Chromosome 17:43115745 (forward strand) | View in location tab


with HGMD-PUBLIC CM041683, CM040687, CM087249

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 120 HGVS names - Show

About this variant

This variant overlaps 66 transcripts and is associated with 2 phenotypes.

Variant displays