Variant (rsID / SNP)

rs121913071

rs121913071 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F13A1. Location: chromosome 6, position 6,248,561. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

F13A1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:6248561
Cytoband: 6p25.1
HGVS: NM_000129.4(F13A1):c.782G>A (p.Arg261His)
Allele change: Missense_R261H

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.