NM_004629.2:c.181C>T

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  2. NM_004629.2:c.181C>T

HGVS Expressions

  • NG_007312.1:g.6286C>T
  • NM_004629.2:c.181C>T
  • NP_004620.1:p.Pro61Ser

Associated Genes

FANCG Gene
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Genomic Location

chr9:35078731

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

931163229

Clinvar

569286

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600901.1Lebanon1Likely PathogenicFanconi Anemia, Complementation Group GFarah 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.