NM_000053.3:c.3009G>A

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  2. NM_000053.3:c.3009G>A

HGVS Expressions

  • NG_008806.1:g.70160G>A
  • NM_000053.3:c.3009G>A
  • NP_000044.2:p.Ala1003=
  • NC_000013.11:g.51946335C>T

Associated Genes

ATPase, Cu(2+)-Transporting, Beta Polypeptide
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

1801247

Clinvar

35714

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.31.1Lebanon2BenignUsta et al. 2012 Sibling of 277900.30.2 and 277900.30.3
277900.31.2Lebanon2BenignUsta et al. 2012 Sibling of 277900.30.1 and 277900.30.3
277900.31.3Lebanon2BenignUsta et al. 2012 Sibling of 277900.30.1 and 277900.30.2
277900.32.1Lebanon2BenignUsta et al. 2012 Has affected deceased sibling, not genot...
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Contributors

  • Pratibha Nair: 13.06.2018

Edit History

  • Pratibha Nair: 12.10.2022
  • Pratibha Nair: 31.12.2018
  • Pratibha Nair: 27.12.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.