NM_006343.3:c.721C>T

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  2. NM_006343.3:c.721C>T

HGVS Expressions

  • NG_011607.1:g.53918C>T
  • NM_006343.3:c.721C>T
  • NP_006334.2:p.Gln241Ter
  • NC_000002.12:g.111947531C>T

Associated Genes

MER Tyrosine Kinase Protooncogene
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613862.G.5United Arab EmiratesNANALikely PathogenicRetinitis Pigmentosa 38Méjécase et al. 2020 Patient(s) from 'family 12' in the publi...
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Contributors

  • Asha Deepthi: 21.07.2022

Edit History

  • Asha Deepthi: 21.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.