rs786205702

This is a variant in the TNFRSF6B gene that changes a histidine to an proline.

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ClinVar annotation

Pathogenic

2 submitters1 publication

Pulmonary fibrosis; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

About TNFRSF6B

This gene belongs to the tumor necrosis factor receptor superfamily. The encoded protein is postulated to play a regulatory role in suppressing FasL- and LIGHT-mediated cell death. It acts as a decoy receptor that competes with death receptors for ligand binding. Over-expression of this gene has been noted in gastrointestinal tract tumors. Read-through transcription into this gene from the neighboring upstream gene, which encodes regulator of telomere elongation helicase 1 (RTEL1), generates a non-coding transcript. [provided by RefSeq, Feb 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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