NM_001127670.3:c.226G>A

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  2. NM_001127670.3:c.226G>A

HGVS Expressions

  • NG_009091.1:g.66907G>A
  • NM_001127670.3:c.226G>A
  • NP_001121142.1:p.Asp76Asn
  • NC_000021.9:g.34449409C>T

Associated Genes

Potassium Channel, Voltage-Gated, ISK-Related Subfamily, Member 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

74315445

Clinvar

13477

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612347.1.1Lebanon1PathogenicJervell and Lange-Nielsen Syndrome 2Schulze-Bahr et al., 1997a; Schulze-Bahr et al., 1997b
612347.1.2Lebanon1PathogenicJervell and Lange-Nielsen Syndrome 2Schulze-Bahr et al., 1997a; Schulze-Bahr et al., 1997b Sibling of 612347.1.1
612347.1.3Lebanon1PathogenicJervell and Lange-Nielsen Syndrome 2Schulze-Bahr et al., 1997a; Schulze-Bahr et al., 1997b Sibling of 612347.1.1
612347.1.4Lebanon1PathogenicSchulze-Bahr et al., 1997a; Schulze-Bahr et al., 1997b Mother of 612347.1.1, 612347.1.2 and 612...
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Contributors

  • Pratibha Nair: 03.02.2020

Edit History

  • Pratibha Nair: 22.11.2022
  • Pratibha Nair: 03.02.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.