NM_001023570.4:c.1130-1G>C

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HGVS Expressions

  • NG_015887.1:g.51647G>C
  • NM_001023570.4:c.1130-1G>C

Associated Genes

IQ Motif-Containing Protein B1
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Genomic Location

chr3:121788433

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204000.5Saudi Arabia2PathogenicLeber Congenital Amaurosis 1Wang et al. 2011 The patient had a great-grandfather and ...
204000.6Saudi Arabia2PathogenicLeber Congenital Amaurosis 1Wang et al. 2011
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Contributors

  • Sayeeda Hana: 21.07.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 21.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.