Variant (rsID / SNP)

rs45540244

rs45540244 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FMR1. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FMR1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq27.3
HGVS: NM_002024.6(FMR1):c.1857C>T (p.Asp619=)
Allele change: Synonymous_D619D

Associated conditions / phenotypes

History of neurodevelopmental disorder

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.