NM_001015877.1:c.2T>C

  1. Home
  2. NM_001015877.1:c.2T>C

HGVS Expressions

  • NG_008886.1:g.9308T>C
  • NM_001015877.1:c.2T>C
  • NP_001015877.1:p.Met1?
  • NC_000023.11:g.134377619T>C

Associated Genes

PHD Finger Protein 6
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

132630300

Clinvar

11068

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
301900.1Lebanon1PathogenicBorjeson-Forssman-Lehmann SyndromeCrawford et al. 2006 Mother showed random pattern of X‐inacti...
Download Table

Contributors

  • Pratibha Nair: 13.07.2021

Edit History

  • Pratibha Nair: 13.07.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.