Variant (rsID / SNP)

rs781764920

rs781764920 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHA. Location: chromosome 5, position 224,547. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SDHAPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:224547
Cytoband: 5p15.33
HGVS: NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)
Allele change: Nonsense_R75X

Associated conditions / phenotypes

Paragangliomas 5|Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5

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.