Variant (rsID / SNP)
rs398122394
rs398122394 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG13. Clinical significance in the table: Pathogenic.
Reference-table entries
ALG13Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Cytoband
- Xq23
- HGVS
- NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)
- Allele change
- Missense_N107S
Associated conditions / phenotypes
Developmental and epileptic encephalopathy, 36|Rare genetic intellectual disability|Intellectual disability|Seizure|Neurodevelopmental delay|Hypotonia|Seizure|Microcephaly
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.