Variant (rsID / SNP)
rs3003609
rs3003609 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNM1. Location: chromosome 9, position 130,984,755. Clinical significance in the table: Benign.
Reference-table entries
DNM1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:130984755
- Cytoband
- 9q34.11
- HGVS
- NM_004408.4(DNM1):c.1008C>T (p.Phe336=)
- Allele change
- Synonymous_F336F
Associated conditions / phenotypes
History of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 31
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.