Original source

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

C/G/T|Ancestral: C|Ambiguity code: B

Chromosome 17:15239591 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM031329, CM991059 ; PhenCode IPNMDB_9 (C/G), IPNMDB_364 (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 6 synonyms - Show

HGVS names

This variant has 36 HGVS names - Show

About this variant

This variant overlaps 16 transcripts and is associated with 4 phenotypes.

Variant displays