NM_014714.4:c.1525-1G>A

  1. Home
  2. NM_014714.4:c.1525-1G>A

HGVS Expressions

  • NG_032783.1:g.45574G>A
  • NM_014714.4:c.1525-1G>A
  • NC_000016.10:g.1571535C>T

Associated Genes

Intraflagellar Transport 140, Chlamydomonas, Homolog of
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

2034013225

Clinvar

974844

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
266920.1Saudi Arabia1NALikely PathogenicShort-Rib Thoracic Dysplasia 9 with or without PolydactylyMaddirevula et al. 2018
Download Table

Contributors

  • Asha Deepthi: 27.12.2021

Edit History

  • Asha Deepthi: 27.12.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.