NM_003995.3:c.3059delG

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  2. NM_003995.3:c.3059delG

HGVS Expressions

  • NG_009249.1:g.21820delG
  • NM_003995.3:c.3059delG
  • NP_003986.2:p.Arg1020fsTer1025

Associated Genes

Natriuretic Peptide Receptor 2
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Genomic Location

chr9:35809228

CTGA Clinical Significance

Benign, Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
602875.3.1Lebanon2Likely PathogenicAcromesomelic Dysplasia, Maroteaux TypeBartels et al. 2004 This patient may have other affected sib...
602875.3.2Lebanon1BenignBartels et al. 2004 Mother of patient 603629.3.1
602875.3.3Lebanon1BenignBartels et al. 2004 Father of patient 603629.3.1
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Contributors

  • Sami Bizzari: 05.05.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 04.10.2020
  • Sami Bizzari: 05.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.