NM_153704.5:c.2439G>A

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  2. NM_153704.5:c.2439G>A

HGVS Expressions

  • NG_009190.1:g.55035G>A
  • NM_153704.5:c.2439G>A
  • NP_714915.3:p.Ala813=
  • NC_000008.11:g.93804878G>A

Associated Genes

Transmembrane Protein 67
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

201791586

Clinvar

1252093

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607361.3Morocco1Likely PathogenicMeckel Syndrome, Type 3Khaddour et al. 2007 Patient is compound heterozygous for the...
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Contributors

  • Sami Bizzari: 17.05.2020

Edit History

  • Pratibha Nair: 21.11.2022
  • Rahila Mir: 14.02.2022
  • Sami Bizzari: 23.06.2020
  • Sami Bizzari: 17.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.