Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/A/T|Ancestral: G|Ambiguity code: D
Location

Chromosome 10:71793532 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1238472 ; HGMD-PUBLIC CM010183

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13248

HGVS names

This variant has 10 HGVS names - Hide

Variant allele A
10:g.71793532G>A
ENST00000622827.4:c.6604G>A
ENSP00000483211.1:p.Asp2202Asn
ENST00000224721.10:c.6619G>A
ENSP00000224721.8:p.Asp2207Asn

Variant allele T
10:g.71793532G>T
ENST00000622827.4:c.6604G>T
ENSP00000483211.1:p.Asp2202Tyr
ENST00000224721.10:c.6619G>T
ENSP00000224721.8:p.Asp2207Tyr

About this variant

This variant overlaps 12 transcripts and is associated with 2 phenotypes.

Variant displays