Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 12:868772 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041013

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 16 HGVS names - click the plus to show

12:g.868772C>T
ENST00000315939.9:c.2140-2493C>T
ENST00000545285.4:c.98-2493C>T
ENST00000535698.1:c.36+6502C>T
ENST00000574564.1:c.943C>T
ENSP00000460651.1:p.Gln315Ter
ENST00000574679.1:c.205C>T
ENSP00000459380.1:p.Gln69Ter
ENST00000340908.7:c.3301C>T
ENSP00000341292.5:p.Gln1101Ter
ENST00000544965.4:c.190+6502C>T
ENST00000537687.4:c.3046C>T
ENSP00000444465.1:p.Gln1016Ter
ENST00000530271.5:c.3046C>T
ENSP00000433548.3:p.Gln1016Ter
ENST00000535572.4:c.2140-2493C>T

About this variant

This variant overlaps 10 transcripts and is associated with 3 phenotypes.

Variation displays