NM_001257966.1:c.1844G>T

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  2. NM_001257966.1:c.1844G>T

HGVS Expressions

  • NG_008483.2:g.225211G>T
  • NM_001257966.1:c.1844G>T
  • NP_001244895.1:p.Gly615Val
  • NC_000001.11:g.197421672G>T

Associated Genes

Crumbs, Drosophila, Homolog of, 1
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

768905244

Clinvar

812299

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600105.G.2PalestinePathogenicRetinitis Pigmentosa 12Beryozkin et al. 2013 Group consisting of affected members fro...
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Contributors

  • Sayeeda Hana: 11.08.2019

Edit History

  • Sami Bizzari: 12.09.2022
  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 14.08.2019
  • Sayeeda Hana: 11.08.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.