Variant (rsID / SNP)

rs121913088

rs121913088 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGG. Location: chromosome 4, position 155,528,084. Clinical significance in the table: Pathogenic.

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Reference-table entries

FGGPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:155528084
Cytoband: 4q32.1
HGVS: NM_021870.2(FGG):c.902G>A (p.Arg301His)
Allele change: Missense_R301H

Associated conditions / phenotypes

FIBRINOGEN HAIFA 1|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.