NM_138691.3:c.596A>T

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HGVS Expressions

  • NG_008213.1:g.235110A>T
  • NM_138691.3:c.596A>T
  • NP_619636.2:p.Asn199Ile
  • NC_000009.12:g.72751910A>T

Associated Genes

Transmembrane Channel-Like Protein 1
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

756960425

Clinvar

634812

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600974.8.1United Arab Emirates2Likely PathogenicAl Mutery et al. 2023
600974.8.2United Arab Emirates2Likely PathogenicAl Mutery et al. 2023 Sibling of 600974.8.1
600974.8.3United Arab Emirates2Likely PathogenicAl Mutery et al. 2023 Sibling of 600974.8.1
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Contributors

  • Pratibha Nair: 10.01.2024

Edit History

  • Pratibha Nair: 10.01.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.