NM_014797.2:c.396_397del

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HGVS Expressions

  • NG_029388.1:g.6607_6608del
  • NM_014797.2:c.396_397del
  • NP_055612.2:p.His132fs
  • NC_000006.12:g.109481631_109481632del

Associated Genes

Zinc Finger And BTB Domain Containing 24
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Clinvar Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1562305058

Clinvar

40181

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614069.1.1Lebanon2NAImmunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2Chouery et al., 2012 Brother of 614069.1.2 & 614069.1.3 (On k...
614069.1.2Lebanon2NAImmunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2Chouery et al., 2012 Brother of 614069.1.1 & 614069.1.3 (On k...
614069.1.3Lebanon2NAImmunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2Chouery et al., 2012 Brother of 614069.1.1 & 614069.1.2 (On k...
614069.1.4Lebanon1NAChouery et al., 2012 Father of 614069.1.1, 614069.1.2 & 61406...
614069.1.5Lebanon1NAChouery et al., 2012 Mother of 614069.1.1, 614069.1.2 & 61406...
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Contributors

  • Asha Deepthi: 24.07.2019

Edit History

  • Asha Deepthi: 28.03.2021
  • Asha Deepthi: 24.07.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.