NM_001365088.1:c.745+2T>A

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HGVS Expressions

  • NG_007951.1:g.86838T>A
  • NM_001365088.1:c.745+2T>A
  • NP_001352017.1:p.?
  • NC_000015.10:g.34256227A>T

Associated Genes

Solute Carrier Family 12 (Potassium/Chloride Transporter), Member 6
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1555380998

Clinvar

551233

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
218000.1United Arab Emirates2Likely PathogenicAgenesis of the Corpus Callosum with Peripheral NeuropathyAlabdullatif et al. 2017 Similarly affected sister
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Contributors

  • Pratibha Nair: 27.06.2022

Edit History

  • Asha Deepthi: 05.12.2022
  • Pratibha Nair: 27.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.