NM_000135.4:c.3412C>G

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  2. NM_000135.4:c.3412C>G

HGVS Expressions

  • NG_011706.1:g.74973C>G
  • NM_000135.4:c.3412C>G
  • NP_000126.2:p.Leu1138Val

Associated Genes

FANCA Gene
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Genomic Location

chr16:89746685

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

138417003

Clinvar

134265

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.50LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B46' from family 23 in the publ...
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Contributors

  • Asha Deepthi: 09.09.2020

Edit History

  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 09.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.