Original source

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

Alleles
T/G|Ancestral: T|Ambiguity code: K
Location

Chromosome 1:25812789 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM022839 ; PhenCode SEPN1:c.1384T>G (T/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13660

HGVS names

This variant has 9 HGVS names - Hide

1:g.25812789T>G
ENST00000630065.2:c.-189T>G
ENST00000361547.6:c.1384T>G
ENSP00000355141.2:p.Sec462Gly
ENST00000494537.1:n.62T>G
ENST00000354177.8:c.1274+8T>G
ENST00000374315.1:c.1282T>G
ENSP00000363434.1:p.Sec428Gly
ENST00000559265.1:n.255+910T>G

About this variant

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

Variant displays