Variant (rsID / SNP)
rs142926807
rs142926807 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHA. Location: chromosome 5, position 224,487. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
SDHABenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:224487
- Cytoband
- 5p15.33
- HGVS
- NM_004168.4(SDHA):c.163T>C (p.Tyr55His)
- Allele change
- Missense_Y55H
Associated conditions / phenotypes
Hereditary pheochromocytoma-paraganglioma|Leigh syndrome|Mitochondrial complex II deficiency, nuclear type 1|Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5|Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.