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
Evidence status

Clinical significance

Synonyms

LSDB 13244, 11604439

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

10:g.71779316G>A
ENST00000622827.3:c.5237G>A
ENSP00000483211.1:p.Arg1746Gln
ENST00000224721.9:c.5387G>A
ENSP00000224721.7:p.Arg1796Gln

Genotyping chips

This variation has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

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

Variation displays