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Variant (rsID / SNP)

rs370714378

SDHA

rs370714378 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHA. Location: chromosome 5, position 228,292. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SDHAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:228292
Cytoband
5p15.33
HGVS
NM_004168.4(SDHA):c.622-8T>C
Allele change
Silent

Associated conditions / phenotypes

Paragangliomas 5|Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5

Public references

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