NM_004801.5:c.1835A>G

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  2. NM_004801.5:c.1835A>G

HGVS Expressions

  • NG_011878.1:g.498976A>G
  • NM_004801.5:c.1835A>G
  • NP_004792.1:p.Glu612Gly
  • NC_000002.12:g.50538561T>C

Associated Genes

Neurexin I
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CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615282.1United Arab Emirates1Likely BenignAl-Shamsi et al. 2016; Saleh et al. 2021 De novo mutation
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Contributors

  • Pratibha Nair: 12.07.2020

Edit History

  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 07.02.2022
  • Pratibha Nair: 12.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.