NM_153704.6:c.2306del

HGVS Expressions

  • NG_009190.1:g.53825del
  • NM_153704.6:c.2306del
  • NP_714915.3:p.Leu769TyrfsTer4
  • NC_000008.11:g.93803668del

Associated Genes

Transmembrane Protein 67
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

Clinvar

1252092

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607361.10.1Saudi Arabia2Likely Pathogenic, PathogenicMeckel Syndrome, Type 3Shaheen et al. 2013
607361.10.2Saudi Arabia1Likely Pathogenic, PathogenicShaheen et al. 2013 Father of patient 607361.10.1
607361.10.3Saudi Arabia1Likely Pathogenic, PathogenicShaheen et al. 2013 Mother of patient 607361.10.1
607361.12Arab2NALikely PathogenicMeckel Syndrome, Type 3Maddirevula et al. 2018
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