NM_015922.3:c.314C>T

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  2. NM_015922.3:c.314C>T

HGVS Expressions

  • NG_009163.2:g.32850C>T
  • NM_015922.3:c.314C>T
  • NP_001123237.1:p.Ala105Val

Associated Genes

NAD(P)H Steroid Dehydrogenase-Like Protein
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Genomic Location

chrX:152858816

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104894909

Clinvar

11426

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
308050.1LebanonPathogenicCongenital Hemidysplasia with Ichthyosiform Erythroderma and Limb DefectsKurban et al, 2010b
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Contributors

  • Sayeeda Hana: 18.05.2020

Edit History

  • Sayeeda Hana: 18.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.