Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 17:43755612 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM010454

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 13377, 2010_April_001_212_SOST_605740_0003

This variant has 3 HGVS names - click the plus to show

17:g.43755612C>T
ENST00000301691.2:c.372G>A
ENSP00000301691.1:p.Trp124Ter

About this variant

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

Variant displays