NM_000394.4:c.145C>T

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HGVS Expressions

  • NG_009823.1:g.5214C>T
  • NM_000394.4:c.145C>T
  • NP_000385.1:p.Arg49Cys
  • NC_000021.9:g.43169244C>T

Associated Genes

Crystallin, Alpha-A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

74315441

Clinvar

16959

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604219.3Egypt2Likely PathogenicCataract 9, Multiple TypesPatel et al. 2018
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Contributors

  • Pratibha Nair: 25.09.2023

Edit History

  • Pratibha Nair: 25.09.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.