NM_000238.4:c.967G>A

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  2. NM_000238.4:c.967G>A

HGVS Expressions

  • NG_008916.1:g.25475G>A
  • NM_000238.4:c.967G>A
  • NP_000229.1:p.Asp323Asn
  • NC_000007.14:g.150957452C>T

Associated Genes

Potassium Channel, Voltage-Gated, Subfamily H, Member 2
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

199472887

Clinvar

67551

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
192500.4LebanonBenignLong QT Syndrome 1Refaat et al. 2016 Patient has long-standing β-thalessemia ...
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Contributors

  • Asha Deepthi: 23.02.2021

Edit History

  • Asha Deepthi: 23.02.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.