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Variant (rsID / SNP)

rs5985

F13A1

rs5985 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F13A1. Location: chromosome 6, position 6,318,795. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

F13A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:6318795
Cytoband
6p25.1
HGVS
NM_000129.4(F13A1):c.103G>T (p.Val35Leu)
Allele change
Missense_V35L

Associated conditions / phenotypes

Venous thrombosis, protection against|Myocardial infarction, protection against|Factor XIII, A subunit, deficiency of

Public references

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