NM_000329.3:c.131G>A

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  2. NM_000329.3:c.131G>A

HGVS Expressions

  • NG_008472.2:g.8136G>A
  • NM_000329.3:c.131G>A
  • NP_000320.1:p.Arg44Gln
  • NC_000001.11:g.68446824C>T

Associated Genes

Retinal Pigment Epithelium-Specific Protein, 65-kD
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

61751282

Clinvar

98840

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204100.G.1Saudi Arabia4+PathogenicLeber Congenital Amaurosis 2Patel et al. 2016 Family with unknown number of affected m...
613794.G.1Saudi Arabia4+PathogenicRetinitis Pigmentosa 20Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 23.07.2024

Edit History

  • Sayeeda Hana: 07.08.2024
  • Sayeeda Hana: 23.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.