NM_000329.3:c.643+1G>C

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  2. NM_000329.3:c.643+1G>C

HGVS Expressions

  • NG_008472.2:g.14108G>C
  • NM_000329.3:c.643+1G>C

Associated Genes

Retinal Pigment Epithelium-Specific Protein, 65-kD
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Genomic Location

chr1:68440852

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

61752889

Clinvar

98881

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204100.1.1Saudi Arabia2PathogenicLeber Congenital Amaurosis 2Patel et al, 2018
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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.