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 10:71732292 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM030204

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13251

HGVS names

This variant has 11 HGVS names - Hide

10:g.71732292G>A
ENST00000616684.4:c.4021G>A
ENSP00000482036.2:p.Asp1341Asn
ENST00000398786.2:c.-6+5436C>T
ENST00000398809.8:c.4018G>A
ENSP00000381789.5:p.Asp1340Asn
ENST00000622827.4:c.4021G>A
ENSP00000483211.1:p.Asp1341Asn
ENST00000224721.10:c.4036G>A
ENSP00000224721.8:p.Asp1346Asn
ENST00000398792.3:n.713G>A

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variant displays