Variant (rsID / SNP)

rs863225458

rs863225458 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMC1A. Clinical significance in the table: Pathogenic.

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Reference-table entries

SMC1APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Cytoband: Xp11.22
HGVS: NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs)

Associated conditions / phenotypes

Congenital muscular hypertrophy-cerebral syndrome|Developmental and epileptic encephalopathy, 85, with or without midline brain defects

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.