NM_001365716.1:c.761A>G

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  2. NM_001365716.1:c.761A>G

HGVS Expressions

  • NM_001365716.1:c.761A>G
  • NP_001352645.1:p.Gln254Arg
  • NC_000003.12:g.197826998A>G

Associated Genes

Leucine Rich Repeats and Calponin Homology Domain Containing 3
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

367782751

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
84859.1.1Syria2Likely PathogenicReuter et al. 2017 Authors classified this gene variant as ...
84859.1.2Syria2Likely PathogenicReuter et al. 2017 Relative of 84859.1.1
84859.1.3Syria2Likely PathogenicReuter et al. 2017 Relative of 84859.1.1
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Contributors

  • Sayeeda Hana: 22.10.2024

Edit History

  • Sayeeda Hana: 22.10.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.