NM_004333.6:c.1914T>G

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HGVS Expressions

  • NG_007873.3:g.180400T>G
  • NM_004333.6:c.1914T>G
  • NP_004324.2:p.Asp638Glu
  • NC_000007.14:g.140749365A>C

Associated Genes

B-Raf Protooncogene, Serine/Threonine Kinase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

180177042

Clinvar

162797

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
115150.1United Arab Emirates1PathogenicCardiofaciocutaneous Syndrome 1Al-Shamsi et al. 2016
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Contributors

    Edit History

    • Pratibha Nair: 23.08.2022
    • Asha Deepthi: 02.07.2020
    • Asha Deepthi: 30.06.2020
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    © CAGS 2024. All rights reserved.