NM_001040167.2:c.564C>A

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  2. NM_001040167.2:c.564C>A

HGVS Expressions

  • NG_008109.2:g.17773C>A
  • NM_001040167.2:c.564C>A
  • NP_001035257.1:p.Phe188Leu

Associated Genes

LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase
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Genomic Location

7:2525301

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104894024

Clinvar

6999

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609813.1.1Lebanon2PathogenicSpondylocostal Dysostosis 3, Autosomal Recessive Sparrow et al, 2006
609813.1.2Lebanon1PathogenicSparrow et al, 2006 Healthy mother of the affected proband 6...
609813.1.3Lebanon1PathogenicSparrow et al, 2006 Healthy father of the affected proband 6...
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Contributors

  • Sami Bizzari: 17.02.2020

Edit History

  • Sami Bizzari: 07.05.2020
  • Sami Bizzari: 17.02.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.