Original source

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

G/A|Ancestral: G|Ambiguity code: R

Chromosome 17:15260663 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM044031 ; PhenCode IPNMDB_751 (G/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 2010_April_001_189_PMP22_601097_0019, 9900, NM_000304.2:c.65C>T

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