NM_000329.3:c.540C>A

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  2. NM_000329.3:c.540C>A

HGVS Expressions

  • NG_008472.2:g.14004C>A
  • NM_000329.3:c.540C>A
  • NP_000320.1:p.His180Gln
  • NC_000001.11:g.68440956G>T

Associated Genes

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

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

2100821857

Clinvar

3251847

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204100.9Saudi Arabia1Likely PathogenicLeber Congenital Amaurosis 2Khan et al. 2014
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Contributors

  • Sayeeda Hana: 04.09.2024

Edit History

  • Sayeeda Hana: 04.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.