Variant (rsID / SNP)
rs6054
rs6054 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGB. Location: chromosome 4, position 155,489,608. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FGBConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:155489608
- Cytoband
- 4q31.3
- HGVS
- NM_005141.5(FGB):c.794C>T (p.Pro265Leu)
- Allele change
- Missense_P206L
Associated conditions / phenotypes
Congenital afibrinogenemia|Hypofibrinogenemia|Abnormal bleeding|Abnormal bleeding|Thrombocytopenia|Afibrinogenemia|Thrombus
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.