NM_001256317.3:c.800C>A

  1. Home
  2. NM_001256317.3:c.800C>A

HGVS Expressions

  • NG_011629.2:g.18875C>A
  • NM_001256317.3:c.800C>A
  • NP_001243246.1:p.Ser267Ter
  • NC_000021.9:g.42382217G>T

Associated Genes

Transmembrane Protease, Serine 3
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601072.GUnited Arab Emirates4Likely PathogenicDeafness, Autosomal Recessive 8Elsayed O and Al-Shamsi A. 2022 Autosomal recessive
Download Table

Contributors

  • Sami Bizzari: 05.10.2023

Edit History

  • Sami Bizzari: 15.11.2023
  • Sami Bizzari: 05.10.2023
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.