Original source

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

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

Chromosome 17:15260681 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920585 ; PhenCode IPNMDB_4 (A/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_000304.2:c.47T>C, 9883, 2010_April_001_177_PMP22_601097_0002

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 2 phenotypes.

Variant displays