Original source

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

Alleles
C/G/T|Ancestral: C|Ambiguity code: B
Location

Chromosome 3:181712823 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM053424

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 5463, 2010_April_001_205_SOX2_184429_0005

HGVS names

This variant has 82 HGVS names - Hide

Variant allele T
3:g.181712823C>T
ENST00000498731.5:n.564-2362C>T
ENST00000593549.5:n.290-2362C>T
ENST00000493521.5:n.782+12940C>T
ENST00000477928.1:n.391+12940C>T
ENST00000595084.2:n.289+12940C>T
ENST00000596250.5:n.289+12940C>T
ENST00000626299.2:n.290-2362C>T
ENST00000630887.2:n.289+12940C>T
ENST00000600386.5:n.290-2362C>T
ENST00000598474.3:n.289+12940C>T
ENST00000476964.5:n.482-26746C>T
ENST00000629552.2:n.266-2362C>T
ENST00000627501.2:n.289+12940C>T
ENST00000626619.2:n.266-2362C>T
ENST00000600801.5:n.290-2362C>T
ENST00000629781.2:n.290-2362C>T
ENST00000597651.5:n.289+12940C>T
ENST00000595287.1:n.286+12940C>T
ENST00000597828.5:n.638-2362C>T
ENST00000593330.1:n.44+12940C>T
ENST00000600778.3:n.285+12940C>T
ENST00000628343.2:n.289+12940C>T
ENST00000492337.5:n.739-2362C>T
ENST00000466034.5:n.389-2362C>T
ENST00000630553.1:n.285+12940C>T
ENST00000491282.5:n.577+12940C>T
ENST00000628496.2:n.290-2362C>T
ENST00000498226.5:n.287-77850C>T
ENST00000599082.1:n.50+13179C>T
ENST00000628810.1:n.48-2362C>T
ENST00000629112.2:n.290-2362C>T
ENST00000627738.1:n.23+11374C>T
ENST00000629830.2:n.289+12940C>T
ENST00000469278.5:n.473-26746C>T
ENST00000325404.2:c.463C>T
ENSP00000323588.1:p.Gln155Ter
ENST00000627530.2:n.290-2362C>T
LRG_719:g.5890C>T
LRG_719t1:c.463C>T
LRG_719p1:p.Gln155Ter

Variant allele G
3:g.181712823C>G
ENST00000498731.5:n.564-2362C>G
ENST00000593549.5:n.290-2362C>G
ENST00000493521.5:n.782+12940C>G
ENST00000477928.1:n.391+12940C>G
ENST00000595084.2:n.289+12940C>G
ENST00000596250.5:n.289+12940C>G
ENST00000626299.2:n.290-2362C>G
ENST00000630887.2:n.289+12940C>G
ENST00000600386.5:n.290-2362C>G
ENST00000598474.3:n.289+12940C>G
ENST00000476964.5:n.482-26746C>G
ENST00000629552.2:n.266-2362C>G
ENST00000627501.2:n.289+12940C>G
ENST00000626619.2:n.266-2362C>G
ENST00000600801.5:n.290-2362C>G
ENST00000629781.2:n.290-2362C>G
ENST00000597651.5:n.289+12940C>G
ENST00000595287.1:n.286+12940C>G
ENST00000597828.5:n.638-2362C>G
ENST00000593330.1:n.44+12940C>G
ENST00000600778.3:n.285+12940C>G
ENST00000628343.2:n.289+12940C>G
ENST00000492337.5:n.739-2362C>G
ENST00000466034.5:n.389-2362C>G
ENST00000630553.1:n.285+12940C>G
ENST00000491282.5:n.577+12940C>G
ENST00000628496.2:n.290-2362C>G
ENST00000498226.5:n.287-77850C>G
ENST00000599082.1:n.50+13179C>G
ENST00000628810.1:n.48-2362C>G
ENST00000629112.2:n.290-2362C>G
ENST00000627738.1:n.23+11374C>G
ENST00000629830.2:n.289+12940C>G
ENST00000469278.5:n.473-26746C>G
ENST00000325404.2:c.463C>G
ENSP00000323588.1:p.Gln155Glu
ENST00000627530.2:n.290-2362C>G
LRG_719:g.5890C>G
LRG_719t1:c.463C>G
LRG_719p1:p.Gln155Glu

About this variant

This variant overlaps 82 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays