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 4:186210586 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM041502

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15844, NM_207352.3:c.1523G>A

HGVS names

This variant has 7 HGVS names - Hide

4:g.186210586G>A
ENST00000378802.4:c.1523G>A
ENSP00000368079.4:p.Arg508His
ENST00000511608.5:c.201+1314G>A
ENST00000502665.1:n.758G>A
ENST00000507209.5:n.6221G>A
ENST00000513354.5:n.613G>A

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays