NM_173483.3:c.981del

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  2. NM_173483.3:c.981del

HGVS Expressions

  • NG_007987.1:g.40488del
  • NM_173483.3:c.981del
  • NP_775754.2:p.Glu328LysfsTer42
  • NC_000019.10:g.15544012del

Associated Genes

Cytochrome P450, Family 4, Subfamily F, Polypeptide 22
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1568362644

Clinvar

560327

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604777.9Lebanon2PathogenicIchthyosis, Congenital, Autosomal Recessive 5Lefevre et al. 2006
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Contributors

  • Pratibha Nair: 30.07.2019

Edit History

  • Pratibha Nair: 09.06.2021
  • Pratibha Nair: 30.07.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.