NM_000525.4:c.101G>A

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  2. NM_000525.4:c.101G>A

HGVS Expressions

  • NG_012446.1:g.5669G>A
  • NM_000525.4:c.101G>A
  • NP_000516.3:p.Arg34His
  • NC_000011.10:g.17387991C>T

Associated Genes

Potassium Channel, Inwardly Rectifying Subfamily J, Member 11
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

141145502

Clinvar

1219242

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600937.G.1Qatar70.019PathogenicDevadoss Gandhi et al. 2024 7 individuals from a study of 14,060 Qat...
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Contributors

  • Sayeeda Hana: 19.12.2024

Edit History

  • Sayeeda Hana: 19.12.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.