NM_018418.5:c.1171C>T

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HGVS Expressions

  • NG_021183.1:g.56910C>T
  • NM_018418.5:c.1171C>T
  • NP_060888.2:p.Arg391Ter

Associated Genes

Spermatogenesis-Associated Protein 7
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Genomic Location

chr14:88437553

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

374268850

Clinvar

489379

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604232.G.1Yemen4PathogenicLeber Congenital Amaurosis 3Patel et al, 2018 2 members of a family
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Contributors

  • Sayeeda Hana: 30.06.2020

Edit History

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