NM_130791.4:c.544A>G

HGVS Expressions

  • NG_011698.1:g.183977A>G
  • NM_130791.4:c.544A>G
  • NP_570607.1:p.Lys182Glu
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Genomic Location

chr16:78278630

Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

518261

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.46LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B42' from family 19 in the publ...
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