NM_000382.3:c.710G>A

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  2. NM_000382.3:c.710G>A

HGVS Expressions

  • NG_007095.2:g.14024G>A
  • NM_000382.3:c.710G>A
  • NP_000373.1:p.Cys237Tyr
  • NC_000017.11:g.19657774G>A

Associated Genes

Aldehyde Dehydrogenase, Family 3, Subfamily A, Member 2
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

72547567

Clinvar

631767

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
270200.2.1Lebanon2PathogenicSjogren-Larsson SyndromeAlió et al, 2006 The patient had a Lebanese mother and a ...
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Contributors

  • Sayeeda Hana: 11.02.2020

Edit History

  • Sayeeda Hana: 07.03.2022
  • Sayeeda Hana: 11.02.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.