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 1:45013933 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM910388

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4801

HGVS names

This variant has 18 HGVS names - Hide

1:g.45013933G>A
ENST00000462688.5:n.626G>A
ENST00000491773.5:n.653G>A
ENST00000428106.1:c.454+142G>A
ENST00000469548.5:n.695G>A
ENST00000494399.5:n.639G>A
ENST00000478467.5:n.502G>A
ENST00000434478.5:c.436G>A
ENSP00000404489.1:p.Glu146Lys
ENST00000486699.5:n.619G>A
ENST00000490385.5:n.573G>A
ENST00000460334.5:n.526G>A
ENST00000496439.1:n.595G>A
ENST00000491300.5:n.618G>A
ENST00000473012.1:n.546G>A
ENST00000246337.8:c.499G>A
ENSP00000246337.4:p.Glu167Lys
ENST00000460906.5:n.633G>A

About this variant

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

Variant displays