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Variant (rsID / SNP)

rs6050

FGA

rs6050 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGA. Location: chromosome 4, position 155,507,590. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FGAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:155507590
Cytoband
4q31.3
HGVS
NM_021871.4(FGA):c.991A>G (p.Thr331Ala)
Allele change
Missense_T331A

Associated conditions / phenotypes

Venous thromboembolism, susceptibility to|Congenital afibrinogenemia|Familial visceral amyloidosis, Ostertag type

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.