rs763252884

This variant is located in the DCLRE1B gene.

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ClinVar annotation

Pathogenic

1 submitter1 publication

Dyskeratosis congenita, autosomal recessive 8

About DCLRE1B

DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM, Mar 2008]

View all DCLRE1B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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