NM_004407.3:c.1A>G

HGVS Expressions

  • NG_008988.1:g.11192A>G
  • NM_004407.3:c.1A>G
  • NP_004398.1:p.Met1Val
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Genomic Location

chr4:87656493

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

8575

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
241520.1.1Lebanon2PathogenicHypophosphatemic Rickets, Autosomal Recessive, 1 Gannagé-Yared et al, 2014; Chouery et al. 2010
241520.1.2Lebanon2PathogenicHypophosphatemic Rickets, Autosomal Recessive, 1 Gannagé-Yared et al, 2014; Chouery et al. 2010 Sister of 241520.1.1
241520.1.3Lebanon1PathogenicGannagé-Yared et al, 2014 Unaffected sister of 241520.1.1
241520.1.4Lebanon1PathogenicGannagé-Yared et al, 2014 Unaffected sister of 241520.1.1
241520.1.5Lebanon1PathogenicGannagé-Yared et al, 2014 Unaffected mother of 241520.1.1
241520.2.1Lebanon2PathogenicHypophosphatemic Rickets, Autosomal Recessive, 1 Lorenz-Depiereux et al. 2006
241520.2.2Lebanon2PathogenicHypophosphatemic Rickets, Autosomal Recessive, 1 Lorenz-Depiereux et al. 2006 Sibling of 241520.2.1
241520.2.3Lebanon2PathogenicHypophosphatemic Rickets, Autosomal Recessive, 1 Lorenz-Depiereux et al. 2006 Sibling of 241520.2.1
241520.2.4Lebanon2PathogenicHypophosphatemic Rickets, Autosomal Recessive, 1 Lorenz-Depiereux et al. 2006 Nephew of 241520.2.1
241520.2.5Lebanon1PathogenicLorenz-Depiereux et al. 2006 Father of 241520.2.1
241520.2.6Lebanon1PathogenicLorenz-Depiereux et al. 2006 Mother of 241520.2.1
241520.2.7Lebanon1PathogenicLorenz-Depiereux et al. 2006 Mother of 241520.2.4 and sibling of 2415...
241520.2.8Lebanon1PathogenicLorenz-Depiereux et al. 2006 Father of 241520.2.4
241520.3Lebanon2PathogenicHypophosphatemic Rickets, Autosomal Recessive, 1 Feng et al. 2006
241520.4.1Lebanon2PathogenicHypophosphatemic Rickets, Autosomal Recessive, 1 Makrythanasis et al. 2014
241520.4.2Lebanon2PathogenicHypophosphatemic Rickets, Autosomal Recessive, 1 Makrythanasis et al. 2014 Sister of 241520.4.1
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