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 15:66435104 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM061105

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4943

HGVS names

This variant has 7 HGVS names - Hide

15:g.66435104T>C
ENST00000307102.9:c.158T>C
ENSP00000302486.4:p.Phe53Ser
ENST00000425818.2:n.669T>C
LRG_725:g.53232T>C
LRG_725t1:c.158T>C
LRG_725p1:p.Phe53Ser

About this variant

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

Variant displays