Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
T/G|Ancestral: T|Ambiguity code: K
Location

Chromosome 1:45013928 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM981990

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4806

HGVS names

This variant has 18 HGVS names - Hide

1:g.45013928T>G
ENST00000462688.5:n.621T>G
ENST00000491773.5:n.648T>G
ENST00000428106.1:c.454+137T>G
ENST00000469548.5:n.690T>G
ENST00000494399.5:n.634T>G
ENST00000478467.5:n.497T>G
ENST00000434478.5:c.431T>G
ENSP00000404489.1:p.Met144Arg
ENST00000486699.5:n.614T>G
ENST00000490385.5:n.568T>G
ENST00000460334.5:n.521T>G
ENST00000496439.1:n.590T>G
ENST00000491300.5:n.613T>G
ENST00000473012.1:n.541T>G
ENST00000246337.8:c.494T>G
ENSP00000246337.4:p.Met165Arg
ENST00000460906.5:n.628T>G

About this variant

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

Variant displays