Variant (rsID / SNP)

rs387906702

rs387906702 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMC1A. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SMC1APathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.22
HGVS: NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr)
Allele change: Missense_I762T

Associated conditions / phenotypes

Congenital muscular hypertrophy-cerebral syndrome|Inborn genetic diseases

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.