Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S | MAF: < 0.01 (C)
Location

Chromosome 3:181712749 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CX064765

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5470

This variant has 41 HGVS names - click the plus to show

3:g.181712749G>C
ENST00000498731.5:n.564-2436G>C
ENST00000593549.5:n.290-2436G>C
ENST00000493521.5:n.782+12866G>C
ENST00000595084.2:n.289+12866G>C
ENST00000477928.1:n.391+12866G>C
ENST00000596250.5:n.289+12866G>C
ENST00000626299.2:n.290-2436G>C
ENST00000630887.2:n.289+12866G>C
ENST00000600386.5:n.290-2436G>C
ENST00000598474.3:n.289+12866G>C
ENST00000476964.5:n.482-26820G>C
ENST00000629552.2:n.266-2436G>C
ENST00000627501.2:n.289+12866G>C
ENST00000626619.2:n.266-2436G>C
ENST00000600801.5:n.290-2436G>C
ENST00000629781.2:n.290-2436G>C
ENST00000597651.5:n.289+12866G>C
ENST00000595287.1:n.286+12866G>C
ENST00000597828.5:n.638-2436G>C
ENST00000593330.1:n.44+12866G>C
ENST00000600778.3:n.285+12866G>C
ENST00000628343.2:n.289+12866G>C
ENST00000492337.5:n.739-2436G>C
ENST00000466034.5:n.389-2436G>C
ENST00000630553.1:n.285+12866G>C
ENST00000491282.5:n.577+12866G>C
ENST00000628496.2:n.290-2436G>C
ENST00000498226.5:n.287-77924G>C
ENST00000629112.2:n.290-2436G>C
ENST00000599082.1:n.50+13105G>C
ENST00000628810.1:n.48-2436G>C
ENST00000469278.5:n.473-26820G>C
ENST00000629830.2:n.289+12866G>C
ENST00000627738.1:n.23+11300G>C
ENST00000325404.2:c.389G>C
ENSP00000323588.1:p.Gly130Ala
ENST00000627530.2:n.290-2436G>C
LRG_719:g.5816G>C
LRG_719t1:c.389G>C
LRG_719p1:p.Gly130Ala

About this variant

This variant overlaps 41 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays