NM_001271938.2:c.7270-2A>G

  1. Home
  2. NM_001271938.2:c.7270-2A>G

HGVS Expressions

  • NG_033030.1:g.54897A>G
  • NM_001271938.2:c.7270-2A>G
  • NP_001258867.1:p.?
  • NC_000019.10:g.42375505A>G

Associated Genes

Multiple Epidermal Growth Factor-Like Domains 8
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
614976.1Saudi Arabia1NALikely PathogenicCarpenter Syndrome 2Twigg et al. 2012 Patient has a similarly affected older b...
Download Table

Contributors

  • Asha Deepthi: 24.01.2023

Edit History

  • Asha Deepthi: 24.01.2023
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.