NM_000135.4:c.1038G>C

HGVS Expressions

  • NG_011706.1:g.29142G>C
  • NM_000135.4:c.1038G>C
  • NP_000126.2:p.Trp346Cys

Associated Genes

FANCA Gene
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Genomic Location

chr16:89792516

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

554900

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.29LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B23' from family 4 in the publi...
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