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 1:45015006 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CS982395

Most severe consequence
 
Splice region variant
Evidence status

Clinical significance

Synonyms

LSDB 4805

HGVS names

This variant has 7 HGVS names - Hide

1:g.45015006G>A
ENST00000472254.1:n.695G>A
ENST00000466193.1:n.468G>A
ENST00000465678.1:n.357G>A
ENST00000494399.5:n.1609G>A
ENST00000246337.8:c.942G>A
ENST00000246337.8:c.942G>A(p.=)

About this variant

This variant overlaps 22 transcripts and is associated with 2 phenotypes.

Variant displays