NM_006204.3:c.1613T>C

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  2. NM_006204.3:c.1613T>C

HGVS Expressions

  • NG_016752.1:g.32613T>C
  • NM_006204.3:c.1613T>C
  • NP_006195.3:p.Phe538Ser
  • NC_000010.11:g.93640200T>C

Associated Genes

Phosphodiesterase 6C, cGMP-Specific, Cone, Alpha-Prime
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

786205462

Clinvar

191011

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204000.G.5Saudi Arabia4+Likely PathogenicLeber Congenital Amaurosis 1Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 02.08.2024

Edit History

  • Sayeeda Hana: 09.09.2024
  • Sayeeda Hana: 02.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.