NM_032856.3:c.1039C>T

HGVS Expressions

  • NG_042034.1:g.15776C>T
  • NM_032856.3:c.1039C>T
  • NP_116245.2:p.His347Tyr
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Genomic Location

chr15: 84643568

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

208467

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
251300.1.1Lebanon2PathogenicGalloway-Mowat Syndrome 1Megarbane et al. 2001; Vodopiutz et al, 2015; Nicolas et al, 2010; Delague et al, 2002 Exhibited 2 distinct homozygous mutation...
251300.1.2Lebanon2PathogenicGalloway-Mowat Syndrome 1Vodopiutz et al, 2015; Nicolas et al, 2010 Sibling of 251300.1.1
251300.1.3Lebanon2PathogenicGalloway-Mowat Syndrome 1Vodopiutz et al, 2015; Nicolas et al, 2010 Distant cousin of 251300.1.1
251300.1.4Lebanon2PathogenicGalloway-Mowat Syndrome 1Vodopiutz et al, 2015; Nicolas et al, 2010 Distant cousin of 251300.1.1
251300.1.5Lebanon2PathogenicGalloway-Mowat Syndrome 1Vodopiutz et al, 2015; Nicolas et al, 2010 Distant cousin of 251300.1.1
251300.1.6Lebanon1PathogenicVodopiutz et al, 2015; Nicolas et al, 2010 Father of 251300.1.1
251300.1.7Lebanon1PathogenicVodopiutz et al, 2015; Nicolas et al, 2010 Mother of 251300.1.1
251300.1.8Lebanon1PathogenicVodopiutz et al, 2015; Nicolas et al, 2010 Mother of 251300.1.3
251300.1.9Lebanon1PathogenicVodopiutz et al, 2015; Nicolas et al, 2010 Father of 251300.1.3
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