Gene: SDHAF2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113560320
rs113560320
SDHAF2
A 0.700 CausalMutation CLINVAR Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas. 28099933

2017
dbSNP: rs113560320
rs113560320
SDHAF2
A 0.700 CausalMutation CLINVAR Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHA. 24414418

2014
dbSNP: rs113560320
rs113560320
SDHAF2
A 0.700 CausalMutation CLINVAR High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 21348866

2012
dbSNP: rs113560320
rs113560320
SDHAF2
A 0.700 CausalMutation CLINVAR Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 22241717

2012
dbSNP: rs876658350
rs876658350
SDHAF2
A 0.700 GeneticVariation CLINVAR Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 22241717

2012
dbSNP: rs113560320
rs113560320
SDHAF2
A 0.700 CausalMutation CLINVAR SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. 20071235

2010
dbSNP: rs113560320
rs113560320
SDHAF2
A 0.700 CausalMutation CLINVAR SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. 19628817

2009
dbSNP: rs375280597
rs375280597
SDHAF2
G 0.700 GeneticVariation CLINVAR