Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M
Location

Chromosome 3:181712608 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM030716

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 5461, 2010_April_001_203_SOX2_184429_0003

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

3:g.181712608C>A
ENST00000498731.4:n.564-2577C>A
ENST00000593549.4:n.290-2577C>A
ENST00000493521.4:n.782+12725C>A
ENST00000595084.2:n.289+12725C>A
ENST00000477928.1:n.391+12725C>A
ENST00000596250.4:n.289+12725C>A
ENST00000626299.1:n.290-2577C>A
ENST00000600386.4:n.290-2577C>A
ENST00000630887.1:n.289+12725C>A
ENST00000598474.2:n.289+12725C>A
ENST00000476964.4:n.482-26961C>A
ENST00000629552.1:n.266-2577C>A
ENST00000627501.1:n.289+12725C>A
ENST00000626619.1:n.266-2577C>A
ENST00000600801.4:n.290-2577C>A
ENST00000629781.1:n.290-2577C>A
ENST00000597651.4:n.289+12725C>A
ENST00000595287.1:n.286+12725C>A
ENST00000597828.4:n.638-2577C>A
ENST00000593330.1:n.44+12725C>A
ENST00000600778.2:n.285+12725C>A
ENST00000628343.1:n.289+12725C>A
ENST00000492337.4:n.739-2577C>A
ENST00000466034.4:n.389-2577C>A
ENST00000630553.1:n.285+12725C>A
ENST00000491282.4:n.577+12725C>A
ENST00000498226.4:n.287-78065C>A
ENST00000628496.1:n.290-2577C>A
ENST00000599082.1:n.50+12964C>A
ENST00000628810.1:n.48-2577C>A
ENST00000629112.1:n.290-2577C>A
ENST00000627738.1:n.23+11159C>A
ENST00000469278.4:n.473-26961C>A
ENST00000325404.2:c.248C>A
ENSP00000323588.1:p.Ser83Ter
ENST00000629830.1:n.289+12725C>A
ENST00000627530.1:n.290-2577C>A
LRG_719:g.5675C>A
LRG_719t1:c.248C>A
LRG_719p1:p.Ser83Ter

About this variant

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

Variation displays