Variant (rsID / SNP)
rs182055219
rs182055219 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHA. Location: chromosome 5, position 233,598. Clinical significance in the table: Uncertain significance.
Reference-table entries
SDHAUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:233598
- Cytoband
- 5p15.33
- HGVS
- NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys)
- Allele change
- Missense_Y253C
Associated conditions / phenotypes
Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5|Dilated cardiomyopathy 1GG|Leigh syndrome|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.