NM_017636.3:c.1294G>A

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HGVS Expressions

  • NG_027551.1:g.29850G>A
  • NM_017636.3:c.1294G>A
  • NP_060106.2:p.Ala432Thr
  • NC_000019.10:g.49182608G>A

Associated Genes

Transient Receptor Potential Cation Channel, Subfamily M, Member 4
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

201907325

Clinvar

35487

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604559.G.1Lebanon35PathogenicProgressive Familial Heart Block, Type IBLiu et al, 2010; de Meeus et al, 1995; Stephan et al, 1978 Large kindred with 52 affected individua...
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Contributors

  • Pratibha Nair: 17.01.2019

Edit History

  • Pratibha Nair: 22.11.2022
  • Sayeeda Hana: 22.03.2021
  • Sayeeda Hana: 04.03.2020
  • Pratibha Nair: 14.05.2019
  • Pratibha Nair: 17.01.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.