Original source

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

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

Chromosome 3:181712498 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM060484

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5467, 2010_April_001_208_SOX2_184429_0009

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

3:g.181712498T>G
ENST00000498731.5:n.564-2687T>G
ENST00000593549.5:n.290-2687T>G
ENST00000493521.5:n.782+12615T>G
ENST00000477928.1:n.391+12615T>G
ENST00000595084.2:n.289+12615T>G
ENST00000596250.5:n.289+12615T>G
ENST00000626299.2:n.290-2687T>G
ENST00000600386.5:n.290-2687T>G
ENST00000630887.2:n.289+12615T>G
ENST00000598474.3:n.289+12615T>G
ENST00000476964.5:n.482-27071T>G
ENST00000629552.2:n.266-2687T>G
ENST00000627501.2:n.289+12615T>G
ENST00000626619.2:n.266-2687T>G
ENST00000600801.5:n.290-2687T>G
ENST00000629781.2:n.290-2687T>G
ENST00000597651.5:n.289+12615T>G
ENST00000595287.1:n.286+12615T>G
ENST00000597828.5:n.638-2687T>G
ENST00000593330.1:n.44+12615T>G
ENST00000600778.3:n.285+12615T>G
ENST00000628343.2:n.289+12615T>G
ENST00000492337.5:n.739-2687T>G
ENST00000466034.5:n.389-2687T>G
ENST00000630553.1:n.285+12615T>G
ENST00000491282.5:n.577+12615T>G
ENST00000498226.5:n.287-78175T>G
ENST00000628496.2:n.290-2687T>G
ENST00000629112.2:n.290-2687T>G
ENST00000628810.1:n.48-2687T>G
ENST00000599082.1:n.50+12854T>G
ENST00000629830.2:n.289+12615T>G
ENST00000469278.5:n.473-27071T>G
ENST00000627738.1:n.23+11049T>G
ENST00000325404.2:c.138T>G
ENSP00000323588.1:p.Asn46Lys
ENST00000627530.2:n.290-2687T>G
LRG_719:g.5565T>G
LRG_719t1:c.138T>G
LRG_719p1:p.Asn46Lys

About this variant

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

Variant displays