NM_058172.5:c.134T>C

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  2. NM_058172.5:c.134T>C

HGVS Expressions

  • NG_015987.1:g.5897T>C
  • NM_058172.5:c.134T>C
  • NP_477520.2:p.Leu45Pro
  • NC_000004.12:g.80072427A>G

Associated Genes

Anthrax Toxin Receptor 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

886041401

Clinvar

280129

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
228600.5.1ArabPathogenicHyaline Fibromatosis SyndromeHanks et al. 2003
228600.5.2ArabPathogenicHyaline Fibromatosis SyndromeHanks et al. 2003
228600.6United Arab Emirates2PathogenicHyaline Fibromatosis SyndromeAl-Gazali and Ali, 2010
228600.8Saudi Arabia2NAPathogenicHyaline Fibromatosis SyndromeMaddirevula et al. 2018
228600.12Saudi Arabia2NAPathogenicHyaline Fibromatosis SyndromeMaddirevula et al. 2018
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Contributors

  • Pratibha Nair: 18.07.2019

Edit History

  • Pratibha Nair: 10.01.2023
  • Asha Deepthi: 24.10.2021
  • Sayeeda Hana: 30.08.2020
  • Pratibha Nair: 18.07.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.