NM_001083602.2:c.4126C>T

HGVS Expressions

  • NG_007664.1:g.75034C>T
  • NM_001083602.2:c.4126C>T
  • NP_001077071.1:p.Arg1376Trp

Associated Genes

Patched 1
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Genomic Location

chr9:95446932

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

41666

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.42LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B38' from family 15 in the publ...
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