NM_000135.4:c.2107C>T

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  2. NM_000135.4:c.2107C>T

HGVS Expressions

  • NG_011706.1:g.49936C>T
  • NP_000126.2:p.Gln703Ter

Associated Genes

FANCA Gene
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Genomic Location

chr16:89771722

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1555548512

Clinvar

552483

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
227650.5Lebanon2PathogenicFanconi Anemia, Complementation Group AFarah et al. 2020
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Contributors

  • Pratibha Nair: 21.09.2020

Edit History

  • Pratibha Nair: 21.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.