Variant (rsID / SNP)
rs131444
rs131444 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHCHD10. Location: chromosome 22, position 24,109,550. Clinical significance in the table: Benign.
Reference-table entries
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 22:24109550
- Cytoband
- 22q11.23
- HGVS
- NM_213720.3(CHCHD10):c.261+11A>G
- Allele change
- Silent
Associated conditions / phenotypes
Autosomal dominant mitochondrial myopathy with exercise intolerance|Lower motor neuron syndrome with late-adult onset|Frontotemporal dementia and/or amyotrophic lateral sclerosis 2|Lower motor neuron syndrome with late-adult onset|Frontotemporal dementia and/or amyotrophic lateral sclerosis 2|Autosomal dominant mitochondrial myopathy with exercise intolerance
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.