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rs80338843

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338843(C;T)
Make rs80338843(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position112087916
GeneSDHD, TIMM8B
is asnp
is mentioned by
dbSNPrs80338843
ebirs80338843
HLIrs80338843
Exacrs80338843
Varsomers80338843
Maprs80338843
PheGenIrs80338843
hapmaprs80338843
1000 genomesrs80338843
hgdprs80338843
ensemblrs80338843
gopubmedrs80338843
geneviewrs80338843
scholarrs80338843
googlers80338843
pharmgkbrs80338843
gwascentralrs80338843
openSNPrs80338843
23andMers80338843
23andMe allrs80338843
SNP Nexus

SNPshotrs80338843
SNPdbers80338843
MSV3drs80338843
GWAS Ctlgrs80338843
Max Magnitude0
OMIM602690
Desc
Variant0002
Relatedalso
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
Variation info
Gene TIMM8B SDHD
CLNDBN Paragangliomas 1 Pheochromocytoma Hereditary Paraganglioma-Pheochromocytoma Syndromes Paraganglioma and gastric stromal sarcoma
Reversed 0
HGVS NC_000011.9:g.111958640C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007296.2, RCV000007297.2, RCV000020518.1, RCV000227867.1,


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