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 16:86567709 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM021602

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 11047

HGVS names

This variant has 4 HGVS names - Hide

16:g.86567709C>T
ENST00000320354.5:c.374C>T
ENSP00000326371.4:p.Ser125Leu
ENST00000563280.1:n.53G>A

About this variant

This variant overlaps 2 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays