Original source

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

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

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

Co-located variants

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, 2010_April_001_177_PMP22_601097_0002, 9883

HGVS names

This variant has 19 HGVS names - Show

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays