NM_000186.4:c.3677_*4del

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  2. NM_000186.4:c.3677_*4del

HGVS Expressions

  • NG_007259.1:g.100284_100307del
  • NM_000186.4:c.3677_*4del
  • NP_000177.2:p.Pro1226_Ter1232delinsXaa

Associated Genes

Complement Factor H
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Genomic Location

chr1:196747294-196747317

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

796052136

Clinvar

16546

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
235400.G.1Palestine4PathogenicHemolytic Uremic Syndrome, Atypical, Susceptibility to, 1Ohali et al. 1998; Ying et al. 1999; Buddles et al. 2000 Two patients belonging to the same exten...
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Contributors

  • Sayeeda Hana: 26.08.2020

Edit History

  • Sayeeda Hana: 05.10.2020
  • Sayeeda Hana: 26.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.