CPXCR1 Chromosome X

CPX chromosome region candidate 1
1 variant 1 Health Risk

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What This Gene Does
This gene is one of several genes identified in a region of the X chromosome associated with an X-linked cleft palate (CPX) disorder. The encoded protein contains a motif similar to a motif found in zinc-finger proteins. Mutation analysis of this gene has not revealed any mutation which causes the CPX disorder. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
Xq21.31
Ensembl
ENSG00000147183
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS759085594 Health Risk Conflicting classifications of pathogenicity
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