NM_014780.5:c.2863-1G>C

HGVS Expressions

  • NG_016205.1:g.13543G>C
  • NM_014780.5:c.2863-1G>C
  • NC_000006.12:g.43045403C>G

Associated Genes

Cullin 7
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
273750.4.1Saudi Arabia2NAPathogenicThree M Syndrome 1Al-Dosari et al. 2012; Maddirevula et al. 2018
273750.4.2Saudi Arabia2NAPathogenicThree M Syndrome 1Al-Dosari et al. 2012; Maddirevula et al. 2018 Sibling of 273750.4.1
273750.4.3Saudi Arabia2NAPathogenicThree M Syndrome 1Al-Dosari et al. 2012; Maddirevula et al. 2018 Cousin of 273750.4.1
273750.4.4Saudi Arabia2NAPathogenicThree M Syndrome 1Al-Dosari et al. 2012; Maddirevula et al. 2018 Sibling of 273750.4.3
273750.7Saudi Arabia2NAPathogenicThree M Syndrome 1Maddirevula et al. 2018
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