Variant (rsID / SNP)

rs1064795438

rs1064795438 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RB1. Location: chromosome 13, position 48,916,800. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

RB1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Microsatellite
Chromosome / position: 13:48916800
Cytoband: 13q14.2
HGVS: NM_000321.3(RB1):c.335_339del (p.Glu112fs)

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.