NM_152443.3:c.139G>A

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  2. NM_152443.3:c.139G>A

HGVS Expressions

  • NG_008321.1:g.27658G>A
  • NM_152443.3:c.139G>A
  • NP_689656.2:p.Ala47Thr
  • NC_000014.9:g.67724543G>A

Associated Genes

Retinol Dehydrogenase 12
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic, Risk factor

Variant Type

Substitution

dbSNP

761231974

Clinvar

852972

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
612712.3Saudi Arabia2PathogenicLeber Congenital Amaurosis 13Monies et al. 2017
612712.G.1Saudi Arabia2Risk factorLeber Congenital Amaurosis 13Patel et al, 2018 4 members of a family
612712.G.3Saudi Arabia4+PathogenicLeber Congenital Amaurosis 13Patel et al. 2016 Family with unknown number of affected m...
612712.G.4Saudi Arabia4+PathogenicLeber Congenital Amaurosis 13Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 25.06.2020

Edit History

  • Asha Deepthi: 02.10.2024
  • Sayeeda Hana: 19.08.2024
  • Sayeeda Hana: 14.08.2024
  • Sayeeda Hana: 11.08.2024
  • Pratibha Nair: 09.11.2022
  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 25.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.