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

Co-located

with HGMD-PUBLIC CM010013

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13244, 11604439

This variant has 5 HGVS names - click the plus to show

10:g.71779316G>A
ENST00000622827.4:c.5237G>A
ENSP00000483211.1:p.Arg1746Gln
ENST00000224721.10:c.5387G>A
ENSP00000224721.7:p.Arg1796Gln

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