NM_000120.4:c.1040G>C

HGVS Expressions

  • NG_009776.1:g.37379G>C
  • NM_000120.4:c.1040G>C
  • NP_000111.1:p.Arg347Thr
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Genomic Location

chr1:225842474

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.45LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B41' from family 18 in the publ...
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