NM_000135.4:c.4232C>T

HGVS Expressions

  • NG_011706.1:g.82748C>T
  • NM_000135.4:c.4232C>T
  • NP_000126.2:p.Pro1411Leu

Associated Genes

FANCA Gene
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Genomic Location

chr16:89738910

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

554240

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.35LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B31' from family 9 in the publi...
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