Original source

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

Alleles
G/C|Ancestral: G|Ambiguity code: S
Location

Chromosome 10:71739772 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CS010092

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13243

HGVS names

This variant has 6 HGVS names - Hide

10:g.71739772G>C
ENST00000622827.4:c.4488G>C
ENSP00000483211.1:p.Gln1496His
ENST00000224721.10:c.4503G>C
ENSP00000224721.8:p.Gln1501His
ENST00000398792.3:n.1177G>C

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays