NM_018451.4:c.3302-1G>C

HGVS Expressions

  • NG_009165.2:g.42277G>C
  • NM_018451.4:c.3302-1G>C
  • NC_000013.11:g.24885671C>G

Associated Genes

Centromeric Protein J
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

18417

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613676.3.1Saudi ArabiaPathogenicSeckel Syndrome 4Shaheen et al. 2019; Al-Dosari et al. 2010
613676.3.2Saudi ArabiaPathogenicSeckel Syndrome 4Shaheen et al. 2019; Al-Dosari et al. 2010 Sibling of 608393.3.1
613676.3.3Saudi ArabiaPathogenicSeckel Syndrome 4Shaheen et al. 2019; Al-Dosari et al. 2010 Relative of 608393.3.1 (Second cousin, o...
613676.3.4Saudi ArabiaPathogenicSeckel Syndrome 4Shaheen et al. 2019; Al-Dosari et al. 2010 Relative of 608393.3.1 (second cousin, o...
613676.3.5Saudi ArabiaPathogenicSeckel Syndrome 4Shaheen et al. 2019; Al-Dosari et al. 2010 Relative of 608393.3.1 (second cousin, o...
613676.3.6Saudi ArabiaPathogenicSeckel Syndrome 4Shaheen et al. 2019 Relative of 608393.3.1
613676.3.7Saudi ArabiaPathogenicSeckel Syndrome 4Shaheen et al. 2019 Relative of 608393.3.1
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