NM_000048.4:c.1136G>A

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  2. NM_000048.4:c.1136G>A

HGVS Expressions

  • NG_009288.1:g.21291G>A
  • NM_000048.4:c.1136G>A
  • NP_000039.2:p.Arg379His
  • NC_000007.14:g.66092079G>A

Associated Genes

Argininosuccinate Lyase
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

200853731

Clinvar

964738

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608310.G.5Qatar40.009PathogenicDevadoss Gandhi et al. 2024 4 individuals from a study of 14,060 Qat...
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Contributors

  • Sayeeda Hana: 20.11.2024

Edit History

  • Sayeeda Hana: 20.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.