Variant (rsID / SNP)

rs28933689

rs28933689 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINA7. Clinical significance in the table: Pathogenic.

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Reference-table entries

SERPINA7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq22.3
HGVS: NM_000354.5(SERPINA7):c.347T>A (p.Ile116Asn)
Allele change: Missense_I116N

Associated conditions / phenotypes

Thyroxine-binding globulin deficiency, partial

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.