NM_001083602.2:c.4054G>A

HGVS Expressions

  • NG_007664.1:g.74962G>A
  • NM_001083602.2:c.4054G>A
  • NP_001077071.1:p.Val1352Ile

Associated Genes

Patched 1
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Genomic Location

chr9:95447004

Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

219882

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.28LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B22' from family 3 in the publi...
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