NM_002860.4:c.413G>A

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  2. NM_002860.4:c.413G>A

HGVS Expressions

  • NG_012258.1:g.24484G>A
  • NM_002860.4:c.413G>A
  • NP_002851.2:p.Arg138Gln
  • NC_000010.11:g.95637327C>T

Associated Genes

Aldehyde Dehydrogenase 18 Family, Member A1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

863225045

Clinvar

217260

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616603.2United Arab Emirates1PathogenicCutis Laxa, Autosomal Dominant 3Fischer-Zirnsak et al. 2015
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Contributors

  • Sayeeda Hana: 13.07.2021

Edit History

  • Asha Deepthi: 07.12.2022
  • Sayeeda Hana: 13.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.