Original source

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

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

Chromosome 10:13283694 (forward strand)|View in location tab

Co-located variants

COSMIC COSM4714200 ; HGMD-PUBLIC CM001301

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 9 HGVS names - Hide

10:g.13283694C>T
ENST00000396913.6:c.524G>A
ENSP00000380121.2:p.Arg175Gln
ENST00000453759.6:c.524G>A
ENSP00000412525.2:p.Arg175Gln
ENST00000396920.7:c.773G>A
ENSP00000380126.3:p.Arg258Gln
ENST00000263038.8:c.824G>A
ENSP00000263038.4:p.Arg275Gln

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays