NM_152443.3:c.379G>T

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  2. NM_152443.3:c.379G>T

HGVS Expressions

  • NG_008875.2:g.1222941G>T
  • NM_152443.3:c.379G>T
  • NP_689656.2:p.Gly127Ter
  • NC_000014.9:g.67726086G>T

Associated Genes

Retinol Dehydrogenase 12
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104894474

Clinvar

2051

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612712.2Saudi Arabia1PathogenicLeber Congenital Amaurosis 13Patel et al. 2016
612712.G.2Saudi Arabia4+PathogenicLeber Congenital Amaurosis 13Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 05.08.2024

Edit History

  • Sayeeda Hana: 11.08.2024
  • Sayeeda Hana: 05.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.