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 12:868697 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM051544

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

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

12:g.868697C>T
ENST00000315939.10:c.2140-2568C>T
ENST00000545285.5:c.98-2568C>T
ENST00000535698.1:c.36+6427C>T
ENST00000574564.1:c.868C>T
ENSP00000460651.1:p.Arg290Ter
ENST00000574679.1:c.130C>T
ENSP00000459380.1:p.Arg44Ter
ENST00000530271.6:c.2971C>T
ENSP00000433548.3:p.Arg991Ter
ENST00000537687.5:c.2971C>T
ENSP00000444465.1:p.Arg991Ter
ENST00000340908.8:c.3226C>T
ENSP00000341292.5:p.Arg1076Ter
ENST00000544965.5:c.190+6427C>T
ENST00000535572.5:c.2140-2568C>T

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

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

Variant displays