Original source

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

C/A|Ancestral: C|Ambiguity code: M

Chromosome 17:15230952 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM981609 ; PhenCode IPNMDB_31 (C/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 9894, 2010_April_001_184_PMP22_601097_0013

HGVS names

This variant has 13 HGVS names - Show

About this variant

This variant overlaps 7 transcripts and is associated with 2 phenotypes.

Variant displays