Variant (rsID / SNP)

rs144354524

rs144354524 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMC1A. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SMC1AConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp11.22
HGVS: NM_006306.4(SMC1A):c.1254+11G>C
Allele change: Silent

Associated conditions / phenotypes

Congenital muscular hypertrophy-cerebral syndrome

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.