Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CS010092

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13243

This variant has 6 HGVS names - click the plus to show

10:g.71739772G>C
ENST00000622827.4:c.4488G>C
ENSP00000483211.1:p.Gln1496His
ENST00000224721.10:c.4638G>C
ENSP00000224721.7:p.Gln1546His
ENST00000398792.3:n.1177G>C

About this variant

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

Variant displays