rs563251762

This variant is located in the TXNDC15 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

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About TXNDC15

This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. [provided by RefSeq, Apr 2017]

View all TXNDC15 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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