NM_001387025.1:c.994C>T

  1. Home
  2. NM_001387025.1:c.994C>T

HGVS Expressions

  • NM_001387025.1:c.994C>T
  • NP_001373954.1:p.Arg332Trp
  • NC_000011.10:g.123600492C>T

Associated Genes

Gram Domain-Containing Protein 1B
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1351709340

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
620179.1.1Syria2Likely PathogenicReuter et al. 2017 Authors classified this gene variant as ...
620179.1.2Syria2Likely PathogenicReuter et al. 2017 Relative of 620179.1.1
Download Table

Contributors

  • Sayeeda Hana: 01.10.2024

Edit History

  • Sayeeda Hana: 25.10.2024
  • Sayeeda Hana: 02.10.2024
  • Sayeeda Hana: 01.10.2024
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.