NM_172362.3:c.1123G>A

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  2. NM_172362.3:c.1123G>A

HGVS Expressions

  • NG_029777.2:g.219137G>A
  • NM_172362.3:c.1123G>A
  • NP_758872.1:p.Gly375Arg

Associated Genes

Potassium channel, Voltage-Gated, Subfamily H, Member 1
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Genomic Location

chr1:210919979

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

730882174

Clinvar

183415

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611816.1Lebanon1PathogenicTemple-Baraitser SyndromeMégarbané et al, 2016 Authors consider Temple-Baraitser Syndro...
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Contributors

  • Pratibha Nair: 23.06.2020

Edit History

  • Pratibha Nair: 23.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.