NM_153704.5:c.1413-2A>G

HGVS Expressions

  • NG_009190.1:g.37999A>G
  • NM_153704.5:c.1413-2A>G

Associated Genes

Transmembrane Protein 67
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Genomic Location

chr8:93787842

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

191259

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607361.7.1Saudi Arabia2Likely Pathogenic, PathogenicMeckel Syndrome, Type 3Al-Hamed et al. 2016
607361.7.2Saudi Arabia2Likely Pathogenic, PathogenicMeckel Syndrome, Type 3Al-Hamed et al. 2016 Affected sibling of 607361.7.1; HPO term...
607361.7.3Saudi Arabia2Likely Pathogenic, PathogenicMeckel Syndrome, Type 3Al-Hamed et al. 2016 Affected sibling of 607361.7.1; HPO term...
607361.7.4Saudi Arabia1Likely Pathogenic, PathogenicAl-Hamed et al. 2016 Healthy Father of the proband 607361.7.1
607361.7.5Saudi Arabia1Likely Pathogenic, PathogenicAl-Hamed et al. 2016 Healthy Mother of the proband 607361.7.1
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