Variant (rsID / SNP)
rs11214077
rs11214077 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHD. Location: chromosome 11, position 111,958,677. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
SDHDBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:111958677
- Cytoband
- 11q23.1
- HGVS
- NM_003002.4(SDHD):c.149A>G (p.His50Arg)
- Allele change
- Silent
Associated conditions / phenotypes
Carcinoid tumor of intestine|Pheochromocytoma|Hereditary cancer-predisposing syndrome|Paragangliomas 1|Carney-Stratakis syndrome|Cowden syndrome 3|Paragangliomas with sensorineural hearing loss|Pheochromocytoma|Carney-Stratakis syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.