Variant (rsID / SNP)
rs35334863
rs35334863 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DPM2. Location: chromosome 9, position 130,698,851. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
DPM2Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:130698851
- Cytoband
- 9q34.11
- HGVS
- NM_003863.4(DPM2):c.177C>T (p.Leu59=)
- Allele change
- Synonymous_L59L
Associated conditions / phenotypes
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.