rs886040859

This is a stop gained variant in the ARCN1 gene.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (SSMG)

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About ARCN1

This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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