Variant (rsID / SNP)

rs17514253

rs17514253 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F13B. Location: chromosome 1, position 197,030,087. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

F13BUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:197030087
Cytoband: 1q31.3
HGVS: NM_001994.3(F13B):c.570G>A (p.Lys190=)
Allele change: Synonymous_K190K

Associated conditions / phenotypes

Factor XIII, b 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.