NM_001163435.3:c.1370del

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  2. NM_001163435.3:c.1370del

HGVS Expressions

  • NG_034057.3:g.86336del;
  • NC_000004.12:g.106235355del
  • NM_001163435.3:c.1370del
  • NP_001156908.1:p.Asn457fs

Associated Genes

TBC1 Domain-Containing Kinase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

746860249

Clinvar

225241

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616900.5.1Algeria2PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3Bhoj et al. 2016 Proband
616900.5.2Algeria2PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3Bhoj et al. 2016 Sister of 616900.5.1
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Contributors

  • Sayeeda Hana: 07.01.2021

Edit History

  • Pratibha Nair: 12.09.2022
  • Sayeeda Hana: 07.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.