rs1390937616

This variant is located in the ANKFY1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
2 submitters

not specified; ANKFY1-related disorder

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About ANKFY1

This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012]

View all ANKFY1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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