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 10:71791215 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM010181

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13247

HGVS names

This variant has 5 HGVS names - Hide

10:g.71791215G>A
ENST00000622827.4:c.6133G>A
ENSP00000483211.1:p.Asp2045Asn
ENST00000224721.10:c.6148G>A
ENSP00000224721.8:p.Asp2050Asn

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays