Variant (rsID / SNP)

rs121434622

rs121434622 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FMR1. Clinical significance in the table: Pathogenic.

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Reference-table entries

FMR1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq27.3
HGVS: NM_002024.6(FMR1):c.911T>A (p.Ile304Asn)
Allele change: Missense_I304N

Associated conditions / phenotypes

Fragile X syndrome

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.