NM_183050.4:c.82_92GGCGCGGGGCT[1]

  1. Home
  2. NM_183050.4:c.82_92GGCGCGGGGCT[1]

HGVS Expressions

  • NG_009775.2:g.5149_5159GGCGCGGGGCT[1]
  • NM_183050.4:c.82_92GGCGCGGGGCT[1]
  • NP_000047.1:p.Ala32fs

Associated Genes

Branched-Chain Keto Acid Dehydrogenase E1, Beta Polypeptide
Back to search Result
Genomic Location

chr6:80106775-80106785

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

398124601

Clinvar

96618

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248600.1.4Lebanon2PathogenicMaple Syrup Urine DiseaseTabbouche et al, 2014
Download Table

Contributors

  • Sayeeda Hana: 18.04.2020

Edit History

  • Sayeeda Hana: 27.09.2020
  • Sayeeda Hana: 18.04.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.