NM_006343.3:c.2079+2T>G

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  2. NM_006343.3:c.2079+2T>G

HGVS Expressions

  • NG_011607.1:g.116455T>G

Associated Genes

MER Tyrosine Kinase Protooncogene
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Genomic Location

chr2:112010068

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

979014

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613862.4Lebanon1PathogenicRetinitis Pigmentosa 38Audo et al. 2018
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Contributors

  • Pratibha Nair: 24.09.2020

Edit History

  • Sami Bizzari: 30.05.2021
  • Pratibha Nair: 24.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.