NM_016464.5:c.377-3C>G

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HGVS Expressions

  • NG_032581.1:g.11594C>G
  • NM_016464.5:c.377-3C>G
  • NC_000011.10:g.61368594C>G

Associated Genes

Transmembrane Protein 138
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

774110963

Clinvar

917959

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614465.10.1Syria2NALikely PathogenicJoubert Syndrome 16Maddirevula et al. 2018
614465.10.2Syria2NALikely PathogenicJoubert Syndrome 16Maddirevula et al. 2018 Relative of 614465.10.1
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Contributors

  • Asha Deepthi: 18.02.2022

Edit History

  • Asha Deepthi: 18.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.