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 10:71779316 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM010013

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13244, 11604439

HGVS names

This variant has 5 HGVS names - Hide

10:g.71779316G>A
ENST00000622827.4:c.5237G>A
ENSP00000483211.1:p.Arg1746Gln
ENST00000224721.10:c.5252G>A
ENSP00000224721.8:p.Arg1751Gln

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 2 transcripts, is associated with 3 phenotypes and is mentioned in 3 citations.

Variant displays