NM_001127671.2:c.2472_2476del

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  2. NM_001127671.2:c.2472_2476del

HGVS Expressions

  • NG_011817.1:g.114562_114566del

Associated Genes

Leukemia Inhibitory Factor Receptor
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Genomic Location

chr5:38485840-38485845

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601559.2Palestine2PathogenicStuve-Wiedemann SyndromeDagoneau et al. 2004
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Contributors

  • Pratibha Nair: 26.08.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 26.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.