NM_002242.4:c.359T>C

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  2. NM_002242.4:c.359T>C

HGVS Expressions

  • NG_016742.1:g.10562T>C
  • NM_002242.4:c.359T>C
  • NP_002233.2:p.Ile120Thr
  • NC_000002.12:g.232771004A>G

Associated Genes

Potassium Channel, Inwardly Rectifying, Subfamily J, Member 13
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

786205550

Clinvar

191155

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268000.G.1Saudi Arabia4+Likely PathogenicRetinitis PigmentosaPatel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 19.07.2024

Edit History

  • Sayeeda Hana: 02.08.2024
  • Sayeeda Hana: 19.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.