Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M
Location

Chromosome 1:183228564 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981174

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 3777

This variation has 5 HGVS names - click the plus to show

1:g.183228564C>A
ENST00000493293.4:c.1659C>A
ENSP00000432063.1:p.Cys553Ter
ENST00000264144.4:c.1659C>A
ENSP00000264144.4:p.Cys553Ter

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variation displays