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

Co-located

with COSMIC COSM2160922 (G/A), COSM4015562 (G/A), COSM2160921 (G/A), COSM2160923 (G/A) ; HGMD-PUBLIC CM074088

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13257

This variant has 17 HGVS names - click the plus to show

10:g.71615573G>A
ENST00000616684.4:c.1037G>A
ENSP00000482036.1:p.Arg346Gln
ENST00000622827.4:c.902G>A
ENSP00000483211.1:p.Arg301Gln
ENST00000398842.7:c.653G>A
ENSP00000381822.4:p.Arg218Gln
ENST00000466757.7:c.273G>A
ENSP00000473539.1:p.Arg92Gln
ENST00000299366.11:c.1037G>A
ENSP00000299366.7:p.Arg346Gln
ENST00000398809.8:c.902G>A
ENSP00000381789.5:p.Arg301Gln
ENST00000461841.7:c.1037G>A
ENSP00000473454.1:p.Arg346Gln
ENST00000224721.10:c.1052G>A
ENSP00000224721.7:p.Arg351Gln

About this variant

This variant overlaps 9 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays