NM_000052.7:c.4006A>G

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HGVS Expressions

  • NG_013224.2:g.137621A>G
  • NM_000052.7:c.4006A>G
  • NP_000043.4:p.Asn1336Asp
  • NC_000023.11:g.78043317A>G

Associated Genes

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

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

146651049

Clinvar

284224

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300011.G.3Qatar350.0024Likely BenignDevadoss Gandhi et al. 2024 35 individuals from a study of 14,060 Qa...
300011.G.6Qatar180.0024Likely BenignDevadoss Gandhi et al. 2024 18 individuals from a study of 14,060 Qa...
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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.