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 12:868046 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM064053

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 14 HGVS names - click the plus to show

12:g.868046C>T
ENST00000315939.10:c.2140-3219C>T
ENST00000535698.1:c.36+5776C>T
ENST00000545285.5:c.98-3219C>T
ENST00000574564.1:c.217C>T
ENSP00000460651.1:p.Gln73Ter
ENST00000544965.5:c.190+5776C>T
ENST00000340908.8:c.2575C>T
ENSP00000341292.5:p.Gln859Ter
ENST00000537687.5:c.2320C>T
ENSP00000444465.1:p.Gln774Ter
ENST00000530271.6:c.2320C>T
ENSP00000433548.3:p.Gln774Ter
ENST00000535572.5:c.2140-3219C>T

About this variant

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

Variant displays