NM_001104631.2:c.73A>G

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  2. NM_001104631.2:c.73A>G

HGVS Expressions

  • NG_027957.1:g.599549A>G
  • NM_001104631.2:c.73A>G
  • NP_001098101.1:p.Thr25Ala

Associated Genes

Phosphodiesterase 4D, cAMP-Specific
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Genomic Location

chr5:59893550

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1014928103

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614613.1Lebanon1PathogenicAcrodysostosis 2 With or without Hormone ResistanceJalkh et al. 2019 Parents are from the same village
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Contributors

  • Pratibha Nair: 27.10.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 27.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.