NM_000546.6:c.245C>T

HGVS Expressions

  • NG_017013.2:g.16427C>T
  • NM_000546.6:c.245C>T
  • NP_000537.3:p.Pro82Leu

Associated Genes

Tumor Protein p53
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Genomic Location

chr17:7676124

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

182946

Epidemiology in the Arab World

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