Variant (rsID / SNP)

rs121913068

rs121913068 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F13A1. Location: chromosome 6, position 6,175,056. Clinical significance in the table: Pathogenic.

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Reference-table entries

F13A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:6175056
Cytoband: 6p25.1
HGVS: NM_000129.4(F13A1):c.1504G>A (p.Gly502Arg)
Allele change: Missense_G502R

Associated conditions / phenotypes

Factor XIII, A subunit, deficiency of

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.