Variant (rsID / SNP)

rs200293248

rs200293248 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG13. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ALG13Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq23
HGVS: NM_001099922.3(ALG13):c.42C>A (p.Asp14Glu)
Allele change: Missense_D14E

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 36

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.