Variant (rsID / SNP)

rs397515549

rs397515549 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMS. The table records no clinical significance for this variant.

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Reference-table entries

SMSNot classified

Variant type: single nucleotide variant
Cytoband: Xp22.11
HGVS: NM_004595.5(SMS):c.174T>A (p.Phe58Leu)
Allele change: Missense_F58L

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.