Variant (rsID / SNP)

rs397515550

rs397515550 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMS. Clinical significance in the table: Pathogenic.

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Reference-table entries

SMSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.11
HGVS: NM_004595.5(SMS):c.200G>A (p.Gly67Glu)
Allele change: Missense_G67E

Associated conditions / phenotypes

Syndromic X-linked intellectual disability Snyder type

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.