NM_003829.5:c.394G>A

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HGVS Expressions

  • NG_042810.1:g.60855G>A
  • NM_003829.5:c.394G>A
  • NP_003820.2:p.Gly132Ser
  • NC_000009.12:g.13223710C>T

Associated Genes

Multiple PDZ Domain Protein
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

201101621

Clinvar

992337

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615219.1United Arab Emirates1Likely PathogenicHydrocephalus, congenital, 2, with or without brain or eye anomalies Al-Shamsi et al. 2016 Compound heterozygous mutations
615219.2.1United Arab Emirates1Likely PathogenicHydrocephalus, congenital, 2, with or without brain or eye anomalies Al-Jezawi et al. 2018 Proband
615219.2.3United Arab Emirates1Al-Jezawi et al. 2018 Mother of 615219.2.1. She has a family h...
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Contributors

  • Pratibha Nair: 18.06.2020

Edit History

  • Pratibha Nair: 21.09.2022
  • Pratibha Nair: 12.09.2022
  • Rahila Mir: 10.02.2022
  • Asha Deepthi: 03.05.2021
  • Pratibha Nair: 18.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.