NM_030621.4:c.5276A>G

HGVS Expressions

  • NG_016311.1:g.68447A>G
  • NM_030621.4:c.5276A>G
  • NP_085124.2:p.Lys1759Arg
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Genomic Location

chr14:95093976

Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

133974

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.40LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B36' from family 13 in the publ...
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