NM_001163435.3:c.1532G>A

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  2. NM_001163435.3:c.1532G>A

HGVS Expressions

  • NG_034057.3:g.88639G>A;
  • NC_000004.12:g.106233045C>T
  • NM_001163435.3:c.1532G>A
  • NP_001156907.2:p.Arg511His

Associated Genes

TBC1 Domain-Containing Kinase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

869320711

Clinvar

225237

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616900.3Egypt2PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3Chong et al. 2016 Proband had a similarly affected sister ...
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Contributors

  • Sayeeda Hana: 07.01.2021

Edit History

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