Original source

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

Alleles
A/T|Ancestral: A|Ambiguity code: W
Location

Chromosome 17:15239584 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM930592, CM110565 ; PhenCode IPNMDB_10 (A/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 9887, 2010_April_001_180_PMP22_601097_0006

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