Variant (rsID / SNP)

rs78257946

rs78257946 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGG. Location: chromosome 4, position 155,527,887. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

FGGLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:155527887
Cytoband: 4q32.1
HGVS: NM_021870.3(FGG):c.1099G>A (p.Ala367Thr)
Allele change: Missense_A367T

Associated conditions / phenotypes

Hypofibrinogenemia|Familial dysfibrinogenemia

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.