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 10:71615573 (forward strand)|View in location tab

Co-located variants
Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13257

HGVS names

This variant has 17 HGVS names - Hide

10:g.71615573G>A
ENST00000616684.4:c.902G>A
ENSP00000482036.2:p.Arg301Gln
ENST00000622827.4:c.902G>A
ENSP00000483211.1:p.Arg301Gln
ENST00000466757.7:c.273G>A
ENSP00000473539.1:p.Arg92Gln
ENST00000398842.7:c.653G>A
ENSP00000381822.4:p.Arg218Gln
ENST00000299366.11:c.902G>A
ENSP00000299366.8:p.Arg301Gln
ENST00000398809.8:c.902G>A
ENSP00000381789.5:p.Arg301Gln
ENST00000224721.10:c.917G>A
ENSP00000224721.8:p.Arg306Gln
ENST00000461841.7:c.902G>A
ENSP00000473454.2:p.Arg301Gln

About this variant

This variant overlaps 9 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays