NM_001127671.2:c.1601-1G>A

  1. Home
  2. NM_001127671.2:c.1601-1G>A

HGVS Expressions

  • NG_011817.1:g.100822G>A
  • NM_001127671.2:c.1601-1G>A
  • NP_001121143.1:p.?
  • NC_000005.10:g.38499584C>T

Associated Genes

Leukemia Inhibitory Factor Receptor
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1483005

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601559.1.1Palestine2PathogenicStuve-Wiedemann SyndromeDagoneau et al. 2004
601559.1.2Palestine2PathogenicStuve-Wiedemann SyndromeDagoneau et al. 2004 Sibling of 601559.1.1
Download Table

Contributors

  • Pratibha Nair: 26.08.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 26.08.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.