Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 17:42903948 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950486

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 11 HGVS names - click the plus to show

17:g.42903948G>A
ENST00000585489.1:c.248G>A
ENSP00000466202.1:p.Arg83His
ENST00000588481.1:n.313G>A
ENST00000253801.6:c.248G>A
ENSP00000253801.1:p.Arg83His
ENST00000592383.5:c.248G>A
ENSP00000465958.1:p.Arg83His
LRG_147:g.8151G>A
LRG_147t1:c.248G>A
LRG_147p1:p.Arg83His

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 5 transcripts, has 2 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays