rs1135402752

This variant is located in the MAMLD1 gene.

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ClinVar annotation

Pathogenic★☆☆☆
1 submitter1 publication

Hypospadias 2, X-linked

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About MAMLD1

This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

View all MAMLD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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