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

Co-located

with HGMD-PUBLIC CM010181

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13247

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

10:g.71791215G>A
ENST00000622827.4:c.6133G>A
ENSP00000483211.1:p.Asp2045Asn
ENST00000224721.10:c.6283G>A
ENSP00000224721.7:p.Asp2095Asn

About this variant

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

Variant displays