NM_153704.6:c.2707G>C

  1. Home
  2. NM_153704.6:c.2707G>C

HGVS Expressions

  • NG_009190.1:g.59987G>C
  • NM_153704.6:c.2707G>C
  • NP_714915.3:p.Glu903Gln
  • NC_000008.11:g.93809830G>C

Associated Genes

Transmembrane Protein 67
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

886039810

Clinvar

266099

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610688.1Saudi Arabia2NALikely PathogenicJoubert Syndrome 6Maddirevula et al. 2018
Download Table

Contributors

  • Asha Deepthi: 21.02.2022

Edit History

  • Asha Deepthi: 21.02.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.