Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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

This variant has 19 HGVS names - click the plus to show

About this variant

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

Variant displays