NM_000052.7:c.1138G>A

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  2. NM_000052.7:c.1138G>A

HGVS Expressions

  • NG_013224.2:g.84064G>A
  • NM_000052.7:c.1138G>A
  • NP_000043.4:p.Val380Met
  • NC_000023.11:g.77989760G>A

Associated Genes

Atpase, Cu(2+)-Transporting, Alpha Polypeptide
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Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

149523862

Clinvar

807776

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300011.G.1Qatar260.001Likely BenignDevadoss Gandhi et al. 2024 26 individuals from a study of 14,060 Qa...
300011.G.4Qatar30.001Likely BenignDevadoss Gandhi et al. 2024 3 individuals from a study of 14,060 Qat...
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Contributors

  • Sayeeda Hana: 25.01.2025

Edit History

  • Sayeeda Hana: 25.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.