Variant (rsID / SNP)

rs864321638

rs864321638 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,359,614. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SDHBLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:17359614
Cytoband: 1p36.13
HGVS: NM_003000.3(SDHB):c.227T>G (p.Leu76Ter)
Allele change: Nonsense_L76X

Associated conditions / phenotypes

Pheochromocytoma

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.