Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
G/T | Ancestral: G | Ambiguity code: K
Location

Chromosome 3:181712637 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM030717

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_202_SOX2_184429_0002, 5460

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

3:g.181712637G>T
ENST00000498731.4:n.564-2548G>T
ENST00000593549.4:n.290-2548G>T
ENST00000493521.4:n.782+12754G>T
ENST00000477928.1:n.391+12754G>T
ENST00000595084.2:n.289+12754G>T
ENST00000596250.4:n.289+12754G>T
ENST00000600386.4:n.290-2548G>T
ENST00000630887.1:n.289+12754G>T
ENST00000626299.1:n.290-2548G>T
ENST00000598474.2:n.289+12754G>T
ENST00000476964.4:n.482-26932G>T
ENST00000629552.1:n.266-2548G>T
ENST00000627501.1:n.289+12754G>T
ENST00000626619.1:n.266-2548G>T
ENST00000600801.4:n.290-2548G>T
ENST00000629781.1:n.290-2548G>T
ENST00000597651.4:n.289+12754G>T
ENST00000595287.1:n.286+12754G>T
ENST00000597828.4:n.638-2548G>T
ENST00000593330.1:n.44+12754G>T
ENST00000600778.2:n.285+12754G>T
ENST00000628343.1:n.289+12754G>T
ENST00000492337.4:n.739-2548G>T
ENST00000466034.4:n.389-2548G>T
ENST00000630553.1:n.285+12754G>T
ENST00000491282.4:n.577+12754G>T
ENST00000628496.1:n.290-2548G>T
ENST00000498226.4:n.287-78036G>T
ENST00000628810.1:n.48-2548G>T
ENST00000599082.1:n.50+12993G>T
ENST00000629112.1:n.290-2548G>T
ENST00000627738.1:n.23+11188G>T
ENST00000325404.2:c.277G>T
ENSP00000323588.1:p.Glu93Ter
ENST00000629830.1:n.289+12754G>T
ENST00000469278.4:n.473-26932G>T
ENST00000627530.1:n.290-2548G>T
LRG_719:g.5704G>T
LRG_719t1:c.277G>T
LRG_719p1:p.Glu93Ter

About this variant

This variant overlaps 42 transcripts and is associated with 2 phenotypes.

Variation displays