NM_000048.4:c.545G>A

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  2. NM_000048.4:c.545G>A

HGVS Expressions

  • NG_009288.1:g.15976G>A
  • NM_000048.4:c.545G>A
  • NP_000039.2:p.Arg182Gln
  • NC_000007.14:g.66086764G>A

Associated Genes

Argininosuccinate Lyase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

751590073

Clinvar

203613

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608310.G.2Qatar40.014PathogenicDevadoss Gandhi et al. 2024 4 individuals from a study of 14,060 Qat...
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Contributors

  • Sayeeda Hana: 19.11.2024

Edit History

  • Sayeeda Hana: 19.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.