Variant (rsID / SNP)

rs1060503763

rs1060503763 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,354,343. 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: 1:17354343
Cytoband: 1p36.13
HGVS: NM_003000.3(SDHB):c.441T>G (p.Tyr147Ter)
Allele change: Nonsense_Y147X

Associated conditions / phenotypes

Pheochromocytoma|Gastrointestinal stromal tumor|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.