Variant (rsID / SNP)
rs372949028
rs372949028 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TANGO2. Location: chromosome 22, position 20,049,207. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
TANGO2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 22:20049207
- Cytoband
- 22q11.21
- HGVS
- NM_152906.7(TANGO2):c.605+1G>A
- Allele change
- Silent
Associated conditions / phenotypes
Episodic flaccid weakness|Intellectual disability|Cardiac arrhythmia|Seizure|Acute rhabdomyolysis|Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome|Abnormality of metabolism/homeostasis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.