rs201956469

This is a stop gained variant in the TMEM260 gene.

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ClinVar annotation

Pathogenic★☆☆☆
3 submitters4 publications

Structural heart defects and renal anomalies syndrome (SHDRA)

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About TMEM260

Enables dolichyl-phosphate-mannose-protein mannosyltransferase activity. Involved in protein maturation. Is active in endoplasmic reticulum membrane. Implicated in T-cell non-Hodgkin lymphoma; non-Hodgkin lymphoma; and stomach cancer. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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