NM_000071.3:c.1058C>T

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  2. NM_000071.3:c.1058C>T

HGVS Expressions

  • NG_008938.1:g.20403C>T
  • NM_000071.3:c.1058C>T
  • NP_000062.1:p.Thr353Met
  • NC_000021.9:g.43060528G>A

Associated Genes

CBS Gene
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121964972

Clinvar

131

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613381.G.2Qatar90.019PathogenicDevadoss Gandhi et al. 2024 9 individuals from a study of 14,060 Qat...
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Contributors

  • Sayeeda Hana: 25.11.2024

Edit History

  • Sayeeda Hana: 25.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.