NM_025216.3:c.697G>T

HGVS Expressions

  • NG_012179.1:g.14772G>T
  • NM_025216.3:c.697G>T
  • NP_079492.2:p.Glu233Ter
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Genomic Location

chr2:218890304

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

4460

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
257980.1.1Lebanon2PathogenicOdontoonychodermal DysplasiaAdaimy et al, 2007
257980.1.2Lebanon2PathogenicOdontoonychodermal DysplasiaAdaimy et al, 2007 Brother of 257980.1.1
257980.1.3Lebanon2PathogenicOdontoonychodermal DysplasiaAdaimy et al, 2007 First cousin of 257980.1.1
257980.1.4Lebanon1PathogenicAdaimy et al, 2007 Unaffected father of 257980.1.1
257980.1.5Lebanon1PathogenicAdaimy et al, 2007 Unaffected mother of 257980.1.1
257980.1.6Lebanon1PathogenicAdaimy et al, 2007 Unaffected father of 257980.1.3
257980.1.7 Lebanon1PathogenicAdaimy et al, 2007 Unaffected mother of 257980.1.3
257980.2.1Lebanon2PathogenicOdontoonychodermal DysplasiaAdaimy et al, 2007
257980.2.2Lebanon2PathogenicOdontoonychodermal DysplasiaAdaimy et al, 2007 Paternal uncle of 257980.2.1
257980.2.3Lebanon1PathogenicAdaimy et al, 2007 Unaffected father of 257980.2.1
257980.2.4Lebanon1PathogenicAdaimy et al, 2007 Unaffected mother of 257980.2.1
257980.3.1Lebanon2PathogenicOdontoonychodermal DysplasiaAdaimy et al, 2007
257980.G.1Lebanon40PathogenicOdontoonychodermal DysplasiaSfeir et al, 2017 Group of 20 affected individuals belongi...
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