Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 1:25813890 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM013289 ; PhenCode SEPN1:c.1397G>A (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13657

HGVS names

This variant has 10 HGVS names - Hide

1:g.25813890G>A
ENST00000630065.2:c.-176G>A
ENST00000361547.6:c.1397G>A
ENSP00000355141.2:p.Arg466Gln
ENST00000494537.1:n.164G>A
ENST00000354177.8:c.1295G>A
ENSP00000346109.4:p.Arg432Gln
ENST00000374315.1:c.1295G>A
ENSP00000363434.1:p.Arg432Gln
ENST00000559265.1:n.255+2011G>A

About this variant

This variant overlaps 11 transcripts and is associated with 2 phenotypes.

Variant displays