Original source

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

Alleles
G/C|Ancestral: G|Ambiguity code: S
Location

Chromosome 17:15239554 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM930594 ; PhenCode IPNMDB_15 (G/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_178_PMP22_601097_0003, 9884

HGVS names

This variant has 18 HGVS names - Show

About this variant

This variant overlaps 8 transcripts and is associated with 2 phenotypes.

Variant displays