NM_002860.4:c.2294G>A

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HGVS Expressions

  • NG_012258.1:g.54955G>A
  • NM_002860.4:c.2294G>A
  • NP_002851.2:p.Arg765Gln
  • NC_000010.11:g.95606856C>T

Associated Genes

Aldehyde Dehydrogenase 18 Family, Member A1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

537043237

Clinvar

216888

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219150.1.1Lebanon1Likely PathogenicCutis Laxa, Autosomal Recessive, Type IIIAHandley et al, 2014 Proband
219150.1.2Lebanon1Likely PathogenicCutis Laxa, Autosomal Recessive, Type IIIAHandley et al, 2014 Brother of 219150.1.1
219150.1.4Lebanon1Likely PathogenicHandley et al, 2014 Unaffected mother of 219150.1.1
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Contributors

  • Sayeeda Hana: 01.09.2019

Edit History

  • Pratibha Nair: 22.11.2022
  • Sayeeda Hana: 01.09.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.