Variant (rsID / SNP)

rs5907

rs5907 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPIND1. Location: chromosome 22, position 21,134,223. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SERPIND1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:21134223
Cytoband: 22q11.21
HGVS: NM_000185.4(SERPIND1):c.623G>A (p.Arg208His)
Allele change: Silent

Associated conditions / phenotypes

Heparin cofactor II deficiency

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.