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ANKFY1

Synonyms
ANKHZN, BTBD23, ZFYVE14
External resources
Summary
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
4,582
Likely benign
629
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ANKFY1 gene.

Phenotype class
Patients in 3billion (%)

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