NM_006343.3:c.1951C>T

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  2. NM_006343.3:c.1951C>T

HGVS Expressions

  • NG_011607.1:g.114853C>T
  • NM_006343.3:c.1951C>T
  • NP_006334.2:p.Arg651Ter

Associated Genes

MER Tyrosine Kinase Protooncogene
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Genomic Location

chr2:112008466

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

119489105

Clinvar

5402

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

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