rs61743947

This variant is located in the LUC7L gene.

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ClinVar annotation

Likely Benign
1 submitter

LUC7L-related disorder

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About LUC7L

The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001 [PubMed 11170747]).[supplied by OMIM, Mar 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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