NM_001163435.3:c.1363A>T

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  2. NM_001163435.3:c.1363A>T

HGVS Expressions

  • NG_034057.3:g.86329A>T
  • NM_001163435.3:c.1363A>T
  • NP_001156907.2:p.Lys455Ter
  • NC_000004.12:g.106235355T>A

Associated Genes

TBC1 Domain-Containing Kinase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

376699648

Clinvar

225236

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616900.2.1Lebanon2PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3Chong et al. 2016 Proband also had 2 brothers with a hemat...
616900.2.2Lebanon2PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3Chong et al. 2016 Double first cousin of 616900.2.1
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Contributors

  • Sayeeda Hana: 07.01.2021

Edit History

  • Pratibha Nair: 06.02.2023
  • Sayeeda Hana: 27.11.2022
  • Sami Bizzari: 24.08.2022
  • Pratibha Nair: 03.02.2022
  • Sayeeda Hana: 07.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.