NM_001039958.2:c.500_503dup

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  2. NM_001039958.2:c.500_503dup

HGVS Expressions

  • NG_008608.1:g.5500_5503dup
  • NM_001039958.2:c.500_503dup
  • NP_001035047.1:p.Gly169fs

Associated Genes

Mesoderm Posterior Basic Helix-Loop-Helix Transcription Factor 2
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Genomic Location

15: 89776857-89776860

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

113994158

Clinvar

5183

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608681.1.1Lebanon2PathogenicSpondylocostal Dysostosis, Autosomal Recessive 2Whittock et al, 2004
608681.1.2Lebanon2PathogenicSpondylocostal Dysostosis, Autosomal Recessive 2Whittock et al, 2004 sibling of the proband 608681.1.1
608681.1.3Lebanon1PathogenicWhittock et al, 2004 Healthy mother of the affected siblings ...
608681.1.4Lebanon1PathogenicWhittock et al, 2004 Healthy father of the affected siblings ...
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Contributors

  • Sami Bizzari: 17.02.2020

Edit History

  • Sayeeda Hana: 26.09.2020
  • Sami Bizzari: 07.05.2020
  • Sami Bizzari: 17.02.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.