NM_003995.3:c.2304_2307delTTGGinsCTGATGGA

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  2. NM_003995.3:c.2304_2307delTTGGinsCTGATGGA

HGVS Expressions

  • NG_009249.1:g.18757_18760delTTGGinsCTGATGGA
  • NM_003995.3:c.2304_2307delTTGGinsCTGATGGA
  • NP_003986.2:p.Trp769Ter

Associated Genes

Natriuretic Peptide Receptor 2
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Genomic Location

9:35806165:35806168

CTGA Clinical Significance

Benign, Likely Pathogenic

Variant Type

Indel

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
602875.2.1Lebanon2Likely PathogenicAcromesomelic Dysplasia, Maroteaux TypeBartels et al. 2004 This patient may have other affected sib...
602875.2.2Lebanon1BenignBartels et al. 2004 Mother of patient 602875.2.1
602875.2.3Lebanon1BenignBartels et al. 2004 Father of patient 602875.2.1
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Contributors

  • Sami Bizzari: 05.05.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Sami Bizzari: 06.05.2020
  • Sami Bizzari: 05.05.2020
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© CAGS 2024. All rights reserved.