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 19:1398980 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM057970

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10025

HGVS names

This variant has 7 HGVS names - Hide

19:g.1398980C>T
ENST00000447102.7:c.506G>A
ENSP00000403536.2:p.Cys169Tyr
ENST00000591788.2:c.191G>A
ENSP00000466341.2:p.Cys64Tyr
ENST00000252288.6:c.506G>A
ENSP00000252288.1:p.Cys169Tyr

About this variant

This variant overlaps 19 transcripts and is associated with 2 phenotypes.

Variant displays