NM_054012.4:c.910C>T

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  2. NM_054012.4:c.910C>T

HGVS Expressions

  • NG_011542.1:g.49698C>T
  • NM_054012.4:c.910C>T
  • NP_446464.1:p.Arg304Trp
  • NC_000009.12:g.130489404C>T

Associated Genes

Argininosuccinate Synthetase 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121908642

Clinvar

6330

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
215700.G.9Lebanon4+PathogenicCitrullinemia, ClassicDaou et al. 2023 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 08.01.2025

Edit History

  • Sayeeda Hana: 10.01.2025
  • Sayeeda Hana: 08.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.