rs796065024

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;CGCGCTGTGCAG)	3	Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
(CGCGCTGTGCAG;CGCGCTGTGCAG)	0	common in clinvar

Make rs796065024(-;-)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

75835418

Gene

UNC13D

is a	snp
is	mentioned by
dbSNP	rs796065024
dbSNP (classic)	rs796065024
ClinGen	rs796065024
ebi	rs796065024
HLI	rs796065024
Exac	rs796065024
Gnomad	rs796065024
Varsome	rs796065024
LitVar	rs796065024
Map	rs796065024
PheGenI	rs796065024
Biobank	rs796065024
1000 genomes	rs796065024
hgdp	rs796065024
ensembl	rs796065024
geneview	rs796065024
scholar	rs796065024
google	rs796065024
pharmgkb	rs796065024
gwascentral	rs796065024
openSNP	rs796065024
23andMe	rs796065024
SNPshot	rs796065024
SNPdbe	rs796065024
MSV3d	rs796065024
GWAS Ctlg	rs796065024

Max Magnitude

3

aka c.1828_1839delCGCGCTGTGCAG (p.Arg610_Gln613del)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

ClinVar
Risk	rs796065024(-;-)
Alt	rs796065024(-;-)
Reference	Rs796065024(CGCGCTGTGCAG;CGCGCTGTGCAG)
Significance	Pathogenic
Disease	Hemophagocytic lymphohistiocytosis
Variation	info
Gene	UNC13D
CLNDBN	Hemophagocytic lymphohistiocytosis, familial, 3
Reversed	1
HGVS	NC_000017.10:g.73831499_73831510delCTGCACAGCGCG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002073.4,