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Variant (rsID / SNP)

rs1060503770

SDHD

rs1060503770 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHD. Location: chromosome 11, position 111,965,539. Clinical significance in the table: Pathogenic.

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Reference-table entries

SDHDPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:111965539
Cytoband
11q23.1
HGVS
NM_003002.4(SDHD):c.325C>T (p.Gln109Ter)
Allele change
Nonsense_Q70X

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Paragangliomas with sensorineural hearing loss|Carney-Stratakis syndrome|Pheochromocytoma|Cowden syndrome 3

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.