Variant (rsID / SNP)

rs751000085

rs751000085 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,355,175. Clinical significance in the table: Pathogenic.

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Reference-table entries

SDHBPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:17355175
Cytoband: 1p36.13
HGVS: NM_003000.3(SDHB):c.343C>T (p.Arg115Ter)
Allele change: Nonsense_R115X

Associated conditions / phenotypes

Hereditary pheochromocytoma-paraganglioma|Pheochromocytoma|Gastrointestinal stromal tumor|Paragangliomas 4|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.