NM_000064.4:c.3343G>A

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HGVS Expressions

  • NG_009557.1:g.32681G>A
  • NM_000064.4:c.3343G>A
  • NP_000055.2:p.Asp1115Asn
  • NC_000019.10:g.6692971C>T

Associated Genes

Complement Component 3
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121909585

Clinvar

17062

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612925.1.1Saudi Arabia2PathogenicHemolytic Uremic Syndrome, Atypical, Susceptibility To, 5Maddirevula et al. 2020 Patient had a paternal first cousin with...
612925.1.G.1Saudi Arabia5Maddirevula et al. 2020 Father, mother and 3 sisters of 612925.1...
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Contributors

  • Sayeeda Hana: 16.11.2022

Edit History

  • Sayeeda Hana: 14.12.2022
  • Sayeeda Hana: 16.11.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.