NM_000382.3:c.941_943delinsGGGCTAAAAGTACTGTTGGGG

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  2. NM_000382.3:c.941_943delinsGGGCTAAAAGTACTGTTGGGG

HGVS Expressions

  • NG_007095.2:g.19583_19585delinsGGGCTAAAAGTACTGTTGGGG
  • NM_000382.3:c.941_943delinsGGGCTAAAAGTACTGTTGGGG
  • NP_001356065.1:p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla

Associated Genes

Aldehyde Dehydrogenase, Family 3, Subfamily A, Member 2
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Genomic Location

chr17:19663333-19663335

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Indel

dbSNP

730880264

Clinvar

1638

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
270200.1.1Lebanon2PathogenicSjogren-Larsson SyndromeSillén et al, 1998
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Contributors

  • Sayeeda Hana: 04.02.2020

Edit History

  • Sayeeda Hana: 26.09.2020
  • Sayeeda Hana: 04.02.2020
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© CAGS 2024. All rights reserved.