Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs200245469

SDHB

rs200245469 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,349,219. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SDHBPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:17349219
Cytoband
1p36.13
HGVS
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)
Allele change
Missense_R217C

Associated conditions / phenotypes

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

Public references

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