NM_006343.3:c.2262C>G

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  2. NM_006343.3:c.2262C>G

HGVS Expressions

  • NG_011607.1:g.127881C>G
  • NM_006343.3:c.2262C>G
  • NP_006334.2:p.Tyr754Ter
  • NC_000002.12:g.112021494C>G

Associated Genes

MER Tyrosine Kinase Protooncogene
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

786205535

Clinvar

191125

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613862.G.10Saudi Arabia4+Likely PathogenicRetinitis Pigmentosa 38Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 28.08.2024

Edit History

  • Sayeeda Hana: 28.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.