Original source

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

Alleles
G/C|Ancestral: G|Ambiguity code: S
Location

Chromosome 1:25812763 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM022838 ; PhenCode SEPN1:c.1358G>C (G/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13658

HGVS names

This variant has 10 HGVS names - Hide

1:g.25812763G>C
ENST00000630065.2:c.-215G>C
ENST00000361547.6:c.1358G>C
ENSP00000355141.2:p.Trp453Ser
ENST00000494537.1:n.36G>C
ENST00000354177.8:c.1256G>C
ENSP00000346109.4:p.Trp419Ser
ENST00000374315.1:c.1256G>C
ENSP00000363434.1:p.Trp419Ser
ENST00000559265.1:n.255+884G>C

About this variant

This variant overlaps 9 transcripts and is associated with 2 phenotypes.

Variant displays