NM_001739.2:c.721G>A

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  2. NM_001739.2:c.721G>A

HGVS Expressions

  • NG_033227.2:g.49678G>A
  • NM_001739.2:c.721G>A
  • NP_001730.1:p.Glu241Lys
  • NC_000016.10:g.87891852C>T

Associated Genes

Carbonic Anhydrase VA
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

563971993

Clinvar

388645

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114761.G.1Qatar50.028Likely PathogenicDevadoss Gandhi et al. 2024 5 individuals from a study of 14,060 Qat...
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Contributors

  • Sayeeda Hana: 24.11.2024

Edit History

  • Sayeeda Hana: 24.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.