NM_019892.6:c.1738A>G

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  2. NM_019892.6:c.1738A>G

HGVS Expressions

  • NG_016126.1:g.14464A>G
  • NM_019892.6:c.1738A>G
  • NP_063945.2:p.Lys580Glu
  • NC_000009.12:g.136430341T>C

Associated Genes

Inositol Polyphosphate-5-Phosphatase, 72-KD
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
213300.G.3Egypt6Likely PathogenicJoubert Syndrome 1Bielas et al. 2009 Three Egyptian patients from 'MTI-627' f...
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Contributors

  • Sayeeda Hana: 25.03.2022

Edit History

  • Sayeeda Hana: 28.03.2022
  • Sayeeda Hana: 25.03.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.