Variant (rsID / SNP)

rs104894307

rs104894307 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHD. Location: chromosome 11, position 111,957,632. 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: 11:111957632
Cytoband: 11q23.1
HGVS: NM_003002.4(SDHD):c.1A>G (p.Met1Val)
Allele change: Missense_M1V

Associated conditions / phenotypes

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

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.