NM_144596.3:c.624+1G>A

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HGVS Expressions

  • NG_008126.1:g.24218G>A
  • NM_144596.3:c.624+1G>A
  • NC_000014.9:g.88843851G>A

Associated Genes

Tetratricopeptide Repeat Domain-Containing Protein 8
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

587777808

Clinvar

2531

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615985.2.1Lebanon2PathogenicBardet-Biedl Syndrome 8Stoetzel et al. 2006; Muller et al. 2010 Single patient. No affected relatives. C...
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Contributors

  • Sami Bizzari: 13.01.2021

Edit History

  • Sami Bizzari: 13.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.