NM_006343.3:c.2189+1G>T

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  2. NM_006343.3:c.2189+1G>T

HGVS Expressions

  • NG_011607.1:g.125910G>T
  • NM_006343.3:c.2189+1G>T

Associated Genes

MER Tyrosine Kinase Protooncogene
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Genomic Location

chr2:112019523

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

371956016

Clinvar

5403

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613862.3.1Morocco2PathogenicRetinitis Pigmentosa 38Ebermann et al. 2007 Index patient (identified as II:5 in the...
613862.3.2Morocco2PathogenicRetinitis Pigmentosa 38Ebermann et al. 2007 Brother of 613862.3.1 (II:3 in the pap...
613862.3.3Morocco2PathogenicRetinitis Pigmentosa 38Ebermann et al. 2007 Brother of 613862.3.1 (II:1 in the pap...
613862.3.4Morocco2PathogenicRetinitis Pigmentosa 38Ebermann et al. 2007 Brother of 613862.3.1 (II:4 in the pap...
613862.3.5Morocco2PathogenicRetinitis Pigmentosa 38Ebermann et al. 2007 Sister of 613862.3.1 (II:6 in the pape...
613862.3.6Morocco1Ebermann et al. 2007 Father of 613862.3.1 (I:1 in the paper...
613862.3.7Morocco1Ebermann et al. 2007 Mother of 613862.3.1 (I:2 in the paper...
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Contributors

  • Sayeeda Hana: 22.07.2020

Edit History

  • Sayeeda Hana: 23.07.2020
  • Sayeeda Hana: 22.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.