NM_000048.4:c.291+1G>T

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HGVS Expressions

  • NG_009288.1:g.11664G>T
  • NM_000048.4:c.291+1G>T
  • NP_000039.2:p.?
  • NC_000007.14:g.66082452G>T

Associated Genes

Argininosuccinate Lyase
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

201523601

Clinvar

203624

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608310.3Qatar10.004PathogenicDevadoss Gandhi et al. 2024 1 individual from a study of 14,060 Qata...
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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.