NM_000096.4:c.944A>G

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HGVS Expressions

  • NG_011800.3:g.19591A>G
  • NM_000096.4:c.944A>G
  • NP_000087.2:p.Asn315Ser
  • NC_000003.12:g.149207455T>C

Associated Genes

Ceruloplasmin
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

370682704

Clinvar

343778

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
117700.G.1Qatar8580.0319Likely BenignDevadoss Gandhi et al. 2024 858 individuals from a study of 14,060 Q...
117700.G.2Qatar800.0319Likely BenignDevadoss Gandhi et al. 2024 40 individuals from a study of 14,060 Qa...
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Contributors

  • Sayeeda Hana: 26.01.2025

Edit History

  • Sayeeda Hana: 26.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.