Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

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

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 13658

This variation has 10 HGVS names - click the plus to show

1:g.25812763G>C
ENST00000630065.1:c.-215G>C
ENST00000361547.5:c.1358G>C
ENSP00000355141.2:p.Trp453Ser
ENST00000494537.1:n.36G>C
ENST00000354177.7: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.

Variation displays