Total 3 pathogenic variants reported for Alpha-2-plasmin inhibitor deficiency
Single Nucleotide Variant (1)
Microsatellite (1)
Duplication (1)
Variant Name
Variant Type
Variant Genomic Location
Clinical Significance
Phenotype Condition
Review Status
ClinGen Allele
dbSNP ID
Variation/condition record
NM_000934.4(SERPINF2):c.1231G>A (p.Val411Met)
SNV
Germline
Chr17:1754289
Pathogenic
Alpha-2-plasmin inhibitor deficiency
No Assertion Criteria Provided
CA114104
rs_121965062
1 Submitters
RCV000000300