NM_024675.4:c.2014G>C

HGVS Expressions

  • NG_007406.1:g.16218G>C
  • NM_024675.4:c.2014G>C
  • NP_078951.2:p.Glu672Gln
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Genomic Location

chr16:23630140

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

126630

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.47LebanonLikely PathogenicBreast CancerJalkh et al, 2017 Patient 'B43' from family 20 in the publ...
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