Variant (rsID / SNP)

rs113560320

rs113560320 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHAF2. Location: chromosome 11, position 61,205,292. Clinical significance in the table: Pathogenic.

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Reference-table entries

SDHAF2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:61205292
Cytoband: 11q12.2
HGVS: NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg)
Allele change: Missense_G78R

Associated conditions / phenotypes

Paragangliomas 2|Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma-paraganglioma

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.