NM_001199835.1:c.46C>T

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  2. NM_001199835.1:c.46C>T

HGVS Expressions

  • NG_033902.1:g.74102C>T
  • NM_001199835.1:c.46C>T
  • NP_001186764.1:p.Arg16Ter

Associated Genes

Sorting Nexin 10
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Genomic Location

Chr7:26360996

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

587777490

Clinvar

139565

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615085.1.1Iraq2NAPathogenicOsteopetrosis, Autosomal Recessive 8Mégarbané A et al. 2013 Jan Proband. Cousin with similar features in...
615085.1.2Iraq1NAMégarbané A et al. 2013 Jan Father of 615085.1.1
615085.1.3Iraq1NAMégarbané A et al. 2013 Jan Mother of 615085.1.1
615085.1.4Iraq1NAMégarbané A et al. 2013 Jan Sister of 615085.1.1
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Contributors

  • Asha Deepthi: 29.04.2019

Edit History

  • Asha Deepthi: 29.04.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.