Original source

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

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

Chromosome 1:25800231 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM022835 ; PhenCode SEPN1:c.1A>G (A/G)

Most severe consequence
 
Start lost
Evidence status

Clinical significance

Synonyms

LSDB 13656

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

1:g.25800231A>G
ENST00000361547.6:c.1A>G
ENSP00000355141.2:p.Met1?
ENST00000354177.8:c.1A>G
ENSP00000346109.4:p.Met1?
ENST00000374315.1:c.1A>G
ENSP00000363434.1:p.Met1?

About this variant

This variant overlaps 3 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays