Variant (rsID / SNP)

rs2234036

rs2234036 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINA7. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SERPINA7Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq22.3
HGVS: NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr)
Allele change: Missense_A211T

Associated conditions / phenotypes

Thyroxine-binding globulin, variant A|Thyroxine-binding globulin 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.