Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: < 0.01 (A)
Location

Chromosome 1:45015389 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM981993

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4809

HGVS names

This variant has 7 HGVS names - Hide

1:g.45015389G>A
ENST00000472254.1:n.748G>A
ENST00000466193.1:n.521G>A
ENST00000465678.1:n.740G>A
ENST00000494399.5:n.1662G>A
ENST00000246337.8:c.995G>A
ENSP00000246337.4:p.Arg332His

About this variant

This variant overlaps 22 transcripts, has 2504 sample genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays