Variant (rsID / SNP)

rs74315372

rs74315372 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,355,123. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SDHBPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:17355123
Cytoband: 1p36.13
HGVS: NM_003000.3(SDHB):c.395A>C (p.His132Pro)
Allele change: Missense_H132P

Associated conditions / phenotypes

Paragangliomas 4|Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor|Pheochromocytoma|Paragangliomas 4

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.