NM_000394.4:c.161G>C

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  2. NM_000394.4:c.161G>C

HGVS Expressions

  • NG_009823.1:g.5230G>C
  • NM_000394.4:c.161G>C
  • NP_000385.1:p.Arg54Pro
  • NC_000021.9:g.43169260G>C

Associated Genes

Crystallin, Alpha-A
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

777728814

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604219.2.1Saudi Arabia2PathogenicCataract 9, Multiple TypesPatel et al. 2017
604219.2.2Saudi Arabia2PathogenicCataract 9, Multiple TypesPatel et al. 2017 Relative of 604219.2.1
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Contributors

  • Sayeeda Hana: 08.03.2023

Edit History

  • Sayeeda Hana: 08.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.