NM_000071.3:c.341C>T

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HGVS Expressions

  • NG_008938.1:g.14578C>T
  • NM_000071.3:c.341C>T
  • NP_000062.1:p.Ala114Val
  • NC_000021.9:g.43066353G>A

Associated Genes

CBS Gene
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121964964

Clinvar

119

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
218340.G.2Syria2PathogenicHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyReuter et al. 2017 2 members of a family
613381.G.5Qatar20.009PathogenicDevadoss Gandhi et al. 2024 2 individuals from a study of 14,060 Qat...
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Contributors

  • Sayeeda Hana: 11.09.2024

Edit History

  • Sayeeda Hana: 26.11.2024
  • Sayeeda Hana: 11.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.