NM_006343.3:c.1335_1336delAG

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  2. NM_006343.3:c.1335_1336delAG

HGVS Expressions

  • NG_011607.1:g.100676_100677delAG
  • NM_006343.3:c.1335_1336delAG
  • NP_006334.2:p.Ala446SerfsTer28

Associated Genes

MER Tyrosine Kinase Protooncogene
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Genomic Location

chr2:111994289-111994290

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

979013

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613862.5.1Saudi Arabia2PathogenicRetinitis Pigmentosa 38Aldahmesh et al. 2009
613862.5.2Saudi Arabia2PathogenicRetinitis Pigmentosa 38Aldahmesh et al. 2009 Brother of 613862.5.1
613862.G.1Saudi Arabia8PathogenicRetinitis Pigmentosa 38Patel et al, 2018 4 family members
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Contributors

  • Sayeeda Hana: 17.06.2020

Edit History

  • Pratibha Nair: 21.11.2022
  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 03.11.2020
  • Sayeeda Hana: 17.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.