NM_020975.6:c.2249C>G

HGVS Expressions

  • NG_007489.1:g.44628C>G
  • NM_020975.6:c.2249C>G
  • NP_066124.1:p.Ala750Gly
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Genomic Location

chr10:43116696

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

560866

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.53LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B49' from family 24 in the publ...
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