NM_148897.2:c.214C>T

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HGVS Expressions

  • NM_148897.2:c.214C>T
  • NP_683695.1:p.Arg72Trp

Associated Genes

Short Chain Dehydrogenase/Reductase Family 9C, Member 7
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Genomic Location

chr12:56934048

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

530109812

Clinvar

430712

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617574.2.1Lebanon2PathogenicIchthyosis, Congenital, Autosomal Recessive 13 Shigehara et al, 2016
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Contributors

  • Sayeeda Hana: 03.07.2019

Edit History

  • Sayeeda Hana: 06.07.2019
  • Sayeeda Hana: 03.07.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.