Variant (rsID / SNP)

rs146800605

rs146800605 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,349,132. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SDHBUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:17349132
Cytoband: 1p36.13
HGVS: NM_003000.3(SDHB):c.736A>G (p.Ile246Val)
Allele change: Missense_I246V

Associated conditions / phenotypes

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

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.