Variant (rsID / SNP)

rs267607000

rs267607000 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RBM10. Clinical significance in the table: Pathogenic.

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Reference-table entries

RBM10Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.3
HGVS: NM_005676.5(RBM10):c.1235G>A (p.Trp412Ter)
Allele change: Nonsense_W477X

Associated conditions / phenotypes

TARP 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.