Variant (rsID / SNP)

rs773148506

rs773148506 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLI1. Location: chromosome 11, position 128,680,494. Clinical significance in the table: Pathogenic.

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Reference-table entries

FLI1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:128680494
Cytoband: 11q24.3
HGVS: NM_002017.5(FLI1):c.970C>T (p.Arg324Trp)
Allele change: Missense_R131W

Associated conditions / phenotypes

Bleeding disorder platelet type macrothrombocytopenia|Bleeding disorder, platelet-type, 21

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.