Variant (rsID / SNP)

rs773401427

rs773401427 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG13. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ALG13Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq23
HGVS: NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly)
Allele change: Missense_A1048G

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.