NM_002860.4:c.2246G>A

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  2. NM_002860.4:c.2246G>A

HGVS Expressions

  • NG_012258.1:g.54907G>A
  • NM_002860.4:c.2246G>A
  • NP_002851.2:p.Arg749Gln

Associated Genes

Aldehyde Dehydrogenase 18 Family, Member A1
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Genomic Location

chr10:95606904

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

748925635

Clinvar

807367

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
219150.1.3Lebanon1Likely PathogenicHandley et al, 2014 Unaffected father of 219150.1.1
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Contributors

  • Sayeeda Hana: 01.09.2019

Edit History

  • Sami Bizzari: 06.06.2021
  • Sayeeda Hana: 01.09.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.