rs80338843

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6.2	Hereditary PGL/PCC Syndrome

Make rs80338843(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

112087916

Gene	SDHD, TIMM8B

is a	snp
is	mentioned by
dbSNP	rs80338843
dbSNP (classic)	rs80338843
ClinGen	rs80338843
ebi	rs80338843
HLI	rs80338843
Exac	rs80338843
Gnomad	rs80338843
Varsome	rs80338843
LitVar	rs80338843
Map	rs80338843
PheGenI	rs80338843
Biobank	rs80338843
1000 genomes	rs80338843
hgdp	rs80338843
ensembl	rs80338843
geneview	rs80338843
scholar	rs80338843
google	rs80338843
pharmgkb	rs80338843
gwascentral	rs80338843
openSNP	rs80338843
23andMe	rs80338843
SNPshot	rs80338843
SNPdbe	rs80338843
MSV3d	rs80338843
GWAS Ctlg	rs80338843

Max Magnitude

6.2

OMIM	602690
Desc
Variant	0002
Related	also

ClinVar
Risk	rs80338843(T;T)
Alt	rs80338843(T;T)
Reference	Rs80338843(C;C)
Significance	Pathogenic
Disease	Paragangliomas 1 Pheochromocytoma Hereditary Paraganglioma-Pheochromocytoma Syndromes Paraganglioma and gastric stromal sarcoma not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	TIMM8B SDHD
CLNDBN	Paragangliomas 1 Pheochromocytoma Hereditary Paraganglioma-Pheochromocytoma Syndromes Paraganglioma and gastric stromal sarcoma not provided Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000011.9:g.111958640C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007296.2, RCV000007297.2, RCV000020518.1, RCV000227867.1, RCV000486967.1, RCV000492087.1,

[PMID 10657297] Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

[PMID 11156372] Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

[PMID 11391798] Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

[PMID 11897817] Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.