Original source

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

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

Chromosome 1:25809753 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM022836 ; PhenCode SEPN1:c.943G>A (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_020451.2:c.943G>A, 13661

This variant has 7 HGVS names - click the plus to show

1:g.25809753G>A
ENST00000361547.6:c.943G>A
ENSP00000355141.2:p.Gly315Ser
ENST00000354177.8:c.841G>A
ENSP00000346109.4:p.Gly281Ser
ENST00000374315.1:c.841G>A
ENSP00000363434.1:p.Gly281Ser

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 7 transcripts, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays