Original source

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

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

Chromosome 6:112061174 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM991253

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 11870

HGVS names

This variant has 17 HGVS names - Hide

6:g.112061174T>C
ENST00000361714.5:c.232T>C
ENSP00000354734.2:p.Cys78Arg
ENST00000620524.3:n.166T>C
ENST00000409166.5:c.-507-105T>C
ENST00000368663.4:c.232T>C
ENSP00000357652.4:p.Cys78Arg
ENST00000454589.5:c.232T>C
ENSP00000395928.1:p.Cys78Arg
ENST00000368664.7:c.286T>C
ENSP00000357653.3:p.Cys96Arg
ENST00000230529.9:c.232T>C
ENSP00000230529.5:p.Cys78Arg
ENST00000368666.6:c.286T>C
ENSP00000357655.3:p.Cys96Arg
ENST00000604763.5:c.232T>C
ENSP00000473777.1:p.Cys78Arg

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variant displays