Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs2227624

SERPINC1

rs2227624 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINC1. Location: chromosome 1, position 173,884,010. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SERPINC1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:173884010
Cytoband
1q25.1
HGVS
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)
Allele change
Missense_V30E

Associated conditions / phenotypes

Hereditary antithrombin deficiency|Thromboembolism|Deep venous thrombosis

Public references

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