Variant (rsID / SNP)

rs189931917

rs189931917 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG13. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ALG13Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Cytoband: Xq23
HGVS: NM_001099922.3(ALG13):c.1798A>G (p.Met600Val)
Allele change: Missense_M600V

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.