rs2030843585
This variant is located in the MORC4 gene.
▶ClinVar annotation
Clinodactyly;Abnormality of the face;Moderate intellectual disability;Macrocephaly;Short 5th metacarpal
View on ClinVar →About MORC4
In human, the four current members of the microrchidia (morc) gene family share an N-terminal ATPase-like ATP-binding region and a CW four-cysteine zinc-finger motif. The protein encoded by this gene also has a nuclear matrix binding domain and a two-stranded coiled-coil motif near its C-terminus. This gene is widely expressed at low levels in normal tissues and has elevated expression in placenta and testis. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]
View all MORC4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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