NM_153704.5:c.383_384delAC

  1. Home
  2. NM_153704.5:c.383_384delAC

HGVS Expressions

  • NG_009190.1:g.8710_8711delAC
  • NM_153704.5:c.383_384delAC
  • NP_714915.3:p.His128Leufs

Associated Genes

Transmembrane Protein 67
Back to search Result
Genomic Location

chr8:93758553-93758554

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

dbSNP

386834200

Clinvar

1365

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607361.6.1Oman2Likely Pathogenic, PathogenicMeckel Syndrome, Type 3Smith et al. 2006
607361.6.2Oman1Likely Pathogenic, PathogenicSmith et al. 2006 Father of patient 607361.6.1
607361.6.3Oman1Likely Pathogenic, PathogenicSmith et al. 2006 Mother of patient 607361.6.1
Download Table

Contributors

  • Sami Bizzari: 20.05.2020

Edit History

  • Sayeeda Hana: 04.10.2020
  • Sami Bizzari: 24.06.2020
  • Sami Bizzari: 23.06.2020
  • Sami Bizzari: 20.05.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.