NM_001319138.2:c.1144del

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  2. NM_001319138.2:c.1144del

HGVS Expressions

  • NG_008076.3:g.25476del
  • NM_001319138.2:c.1144del
  • NP_000548.2:p.Ala382fs

Associated Genes

Growth/Differentiation Factor 5
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Genomic Location

chr20:35434273

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1568731526

Clinvar

623302

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
200700.2.1Oman2PathogenicChondrodysplasia, Grebe TypeAl-Yahyaee et al. 2003
200700.2.2Oman2PathogenicChondrodysplasia, Grebe TypeAl-Yahyaee et al. 2003 Brother of 200700.2.1
200700.2.3Oman2PathogenicChondrodysplasia, Grebe TypeAl-Yahyaee et al. 2003 Sister of 200700.2.1
200700.2.4Oman1Al-Yahyaee et al. 2003 Father of 200700.2.1
200700.2.5Oman1Al-Yahyaee et al. 2003 Mother of 200700.2.1
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Contributors

  • Sayeeda Hana: 21.07.2020

Edit History

  • Sayeeda Hana: 05.10.2020
  • Sayeeda Hana: 21.07.2020
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© CAGS 2024. All rights reserved.