NM_201253.3:c.2701G>T

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  2. NM_201253.3:c.2701G>T

HGVS Expressions

  • NG_008483.3:g.232971G>T
  • NM_201253.3:c.2701G>T
  • NP_957705.1:p.Val901Phe
  • NC_000001.11:g.197429473G>T

Associated Genes

Crumbs, Drosophila, Homolog of, 1
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1664767158

Clinvar

978993

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600105.9Saudi Arabia2Likely PathogenicRetinitis Pigmentosa 12Patel et al. 2016
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Contributors

  • Sayeeda Hana: 19.08.2024

Edit History

  • Sayeeda Hana: 19.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.