NM_213606.4:c.404C>T

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HGVS Expressions

  • NG_021179.1:g.99405C>T
  • NM_213606.4:c.404C>T
  • NP_998771.3:p.Ala135Val
  • NC_000010.11:g.89441152G>A

Associated Genes

Solute Carrier Family 16 (Monocarboxylic Acid Transporter), Member 12
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

786205460

Clinvar

191007

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612018.1Saudi Arabia1PathogenicCataract 47Patel et al. 2017
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Contributors

  • Sayeeda Hana: 16.03.2023

Edit History

  • Sayeeda Hana: 16.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.