NM_000553.6:c.4129G>A

HGVS Expressions

  • NG_008870.1:g.138907G>A
  • NM_000553.6:c.4129G>A
  • NP_000544.2:p.Gly1377Ser
  • NC_000008.11:g.31167168G>A

Associated Genes

RECQ Protein-Like 2
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

528107

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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