NM_006565.4:c.1670_1674delGTTCT

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  2. NM_006565.4:c.1670_1674delGTTCT

HGVS Expressions

  • NG_033892.1:g.71115_71119del
  • NM_006565.4:c.1670_1674delGTTCT
  • NP_006556.1:p.Val556_Cys557insTer

Associated Genes

CCCTC-Binding Factor
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Genomic Location

chr16:67628521-67628525

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

886041901

Clinvar

280753

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615502.1Lebanon1PathogenicMental Retardation, Autosomal Dominant 21Nair et al. 2018
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Contributors

  • Pratibha Nair: 16.04.2020

Edit History

  • Sayeeda Hana: 27.09.2020
  • Pratibha Nair: 16.04.2020
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© CAGS 2024. All rights reserved.