NM_004183.4:c.830C>T

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HGVS Expressions

  • NG_009033.1:g.13378C>T
  • NM_004183.4:c.830C>T
  • NP_004174.1:p.Thr277Met

Associated Genes

Bestrophin 1
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Genomic Location

chr11:61958261

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

775791299

Clinvar

860652

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611809.2.1Lebanon2PathogenicBestrophinopathy, Autosomal RecessiveJaffal et al, 2019
611809.2.2Lebanon1Jaffal et al, 2019 Father of 611809.2.1
611809.2.3Lebanon1Jaffal et al, 2019 Mother of 611809.2.1
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Contributors

  • Sayeeda Hana: 25.09.2020

Edit History

  • Sayeeda Hana: 26.09.2020
  • Sayeeda Hana: 25.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.