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gene: ZNF214

id7761
symbolZNF214
organismHomo sapiens
full namezinc finger protein 214
summaryThis gene is expressed predominantly in the testis and encodes a zinc finger protein that contains an N-terminal kruppel-associated box A (KRABA) domain and twelve zinc finger domains. This gene is located within one of three regions on chromosome 11p15 associated with Beckwith-Wiedemann syndrome, called Beckwith-Wiedemann syndrome chromosome region-2 (BWSCR2), and is thought to play a role in the etiology of this disease. [provided by RefSeq, Aug 2017]
variant-disease

GRCh37/hg19 11p15.4(chr11:6905914-7062692)x1 AND not provided

GRCh37/hg19 11p15.4(chr11:6908898-7058885)x1 AND not provided

GRCh37/hg19 11p15.4(chr11:6969013-9257231)x3 AND not provided

GRCh38/hg38 11p15.4(chr11:3745061-7846057)x3 AND See cases

GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 AND not provided

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