NM_030957.3:c.1190+1G>A

HGVS Expressions

  • NG_011840.2:g.19397G>A
  • NM_030957.3:c.1190+1G>A
  • NP_112219.3:p.?
  • NC_000019.10:g.8596306C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1945

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277600.1.4Saudi Arabia2PathogenicDagoneau et al. 2004 Sibling of 277600.1.5 and 277600.1.6
277600.1.5Saudi Arabia2PathogenicDagoneau et al. 2004 Sibling of 277600.1.4 and 277600.1.6
277600.1.6Saudi Arabia2PathogenicDagoneau et al. 2004 Sibling of 277600.1.4 and 277600.1.5
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