NM_000186.4:c.3572C>T

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  2. NM_000186.4:c.3572C>T

HGVS Expressions

  • NG_007259.1:g.100179C>T
  • NM_000186.4:c.3572C>T
  • NP_000177.2:p.Ser1191Leu
  • NC_000001.11:g.196747189C>T

Associated Genes

Complement Factor H
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Clinvar Clinical Significance

Pathogenic, Risk factor

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

460897

Clinvar

16545

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
235400.1.1Palestine2PathogenicHemolytic Uremic Syndrome, Atypical, Susceptibility to, 1Ohali et al. 1998; Ying et al. 1999 Patient belongs to an extended, large, h...
235400.1.2Palestine2PathogenicHemolytic Uremic Syndrome, Atypical, Susceptibility to, 1Ohali et al. 1998; Ying et al. 1999 Second cousin of 235400.1.1
234500.G.2Palestine20Ohali et al. 1998; Ying et al. 1999 Group of 20 unaffected individuals belon...
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Contributors

  • Sayeeda Hana: 25.08.2020

Edit History

  • Sami Bizzari: 12.09.2022
  • Sayeeda Hana: 26.08.2020
  • Sayeeda Hana: 25.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.