Variant (rsID / SNP)

rs2227627

rs2227627 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINC1. Location: chromosome 1, position 173,879,976. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SERPINC1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:173879976
Cytoband: 1q25.1
HGVS: NM_000488.4(SERPINC1):c.678C>T (p.Thr226=)
Allele change: Synonymous_T226T

Associated conditions / phenotypes

Hereditary antithrombin 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.