Variant (rsID / SNP)

rs1278834014

rs1278834014 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,350,468. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SDHBUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:17350468
Cytoband: 1p36.13
HGVS: NM_003000.3(SDHB):c.642G>C (p.Gln214His)
Allele change: Missense_Q214H

Associated conditions / phenotypes

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

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.