Variant (rsID / SNP)

rs878854594

rs878854594 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHD. Location: chromosome 11, position 111,965,575. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SDHDPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:111965575
Cytoband: 11q23.1
HGVS: NM_003002.4(SDHD):c.361C>T (p.Gln121Ter)
Allele change: Nonsense_Q82X

Associated conditions / phenotypes

Paragangliomas with sensorineural hearing loss|Pheochromocytoma|Carney-Stratakis syndrome|Cowden syndrome 3|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.