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Variant (rsID / SNP)

rs104894310

SDHD

rs104894310 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHD. Location: chromosome 11, position 111,957,645. 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
11:111957645
Cytoband
11q23.1
HGVS
NM_003002.4(SDHD):c.14G>A (p.Trp5Ter)
Allele change
Nonsense_W5X

Associated conditions / phenotypes

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

Public references

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