NM_004260.4:c.3184C>T

HGVS Expressions

  • NG_016430.1:g.10631C>T
  • NM_004260.4:c.3184C>T
  • NP_004251.4:p.Arg1062Trp

Associated Genes

RECQ Protein-Like 4
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Genomic Location

chr8:144512196

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

135145

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.41LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B37' from family 14 in the publ...
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