NM_018418.5:c.322C>T

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HGVS Expressions

  • NG_021183.1:g.36151C>T
  • NM_018418.5:c.322C>T
  • NP_060888.2:p.Arg108Ter

Associated Genes

Spermatogenesis-Associated Protein 7
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Genomic Location

chr14:88416794

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

80044281

Clinvar

1395

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604232.1.1Saudi Arabia2PathogenicLeber Congenital Amaurosis 3Li et al. 2009; Wang et al. 2009
604232.1.2Saudi Arabia2PathogenicLeber Congenital Amaurosis 3Li et al. 2009; Wang et al. 2009 Brother of 604232.1.1
604232.1.3Saudi Arabia2PathogenicLeber Congenital Amaurosis 3Li et al. 2009; Wang et al. 2009 Sister of 604232.1.1
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Contributors

  • Sayeeda Hana: 30.06.2020

Edit History

  • Sayeeda Hana: 01.07.2020
  • Sayeeda Hana: 30.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.