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 10:71793370 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM021546

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 11604444, 13250

HGVS names

This variant has 5 HGVS names - Hide

10:g.71793370G>A
ENST00000622827.4:c.6442G>A
ENSP00000483211.1:p.Asp2148Asn
ENST00000224721.10:c.6457G>A
ENSP00000224721.8:p.Asp2153Asn

About this variant

This variant overlaps 6 transcripts, is associated with 3 phenotypes and is mentioned in 3 citations.

Variant displays