NM_001080125.2:c.1117A>G

HGVS Expressions

  • NG_007497.1:g.56496A>G
  • NM_001080125.2:c.1117A>G
  • NP_001073594.1:p.Ile373Val
  • NC_000002.12:g.201284953A>G
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

1481805

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.41LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B37' from family 14 in the publ...
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