NM_000135.4:c.964C>T

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  2. NM_000135.4:c.964C>T

HGVS Expressions

  • NG_011706.1:g.25710C>T
  • NM_000135.4:c.964C>T
  • NP_000126.2:p.His322Tyr
  • NC_000016.10:g.89795948G>A

Associated Genes

FANCA Gene
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Clinvar Clinical Significance

Likely Benign, Likely Pathogenic, Pathogenic, Uncertain Significance

Variant Type

Substitution

dbSNP

772768595

Clinvar

456146

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
227650.G.1Saudi Arabia2Monies et al. 2017 Carrier parents of three (deceased) chil...
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Contributors

  • Asha Deepthi: 02.10.2024

Edit History

  • Asha Deepthi: 02.10.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.