Original source

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

Alleles
G/T|Ancestral: G|Ambiguity code: K
Location

Chromosome 17:15260692 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM950966 ; PhenCode IPNMDB_3 (G/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 9889, 2010_April_001_182_PMP22_601097_0008

HGVS names

This variant has 19 HGVS names - Show

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays