Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs1228560456

SDHB

rs1228560456 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,350,476. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SDHBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:17350476
Cytoband
1p36.13
HGVS
NM_003000.3(SDHB):c.634C>T (p.Leu212Phe)
Allele change
Missense_L212F

Associated conditions / phenotypes

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

Public references

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