Variant (rsID / SNP)

rs137852561

rs137852561 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SYP. Clinical significance in the table: Pathogenic.

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Reference-table entries

SYPPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_003179.3(SYP):c.649G>C (p.Gly217Arg)
Allele change: Missense_G217R

Associated conditions / phenotypes

Intellectual disability, X-linked 96

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.