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Variant (rsID / SNP)

rs748089700

SDHA

rs748089700 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHA. Location: chromosome 5, position 240,574. 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
5:240574
Cytoband
5p15.33
HGVS
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
Allele change
Nonsense_R464X

Associated conditions / phenotypes

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

Public references

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