NM_173483.3:c.1306C>G

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  2. NM_173483.3:c.1306C>G

HGVS Expressions

  • NG_007987.1:g.45649C>G
  • NM_173483.3:c.1306C>G
  • NP_775754.2:p.His436Asp

Associated Genes

Cytochrome P450, Family 4, Subfamily F, Polypeptide 22
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Genomic Location

chr19:15549173

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

118203936

Clinvar

910

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604778.10.1Algeria2PathogenicIchthyosis, Congenital, Autosomal Recessive 5Lefevre et al. 2006
604778.10.2Algeria2PathogenicIchthyosis, Congenital, Autosomal Recessive 5Lefevre et al. 2006 Sibling of 604778.10.1
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Contributors

  • Pratibha Nair: 30.07.2019

Edit History

  • Pratibha Nair: 30.07.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.