NM_001258281.1:c.447+1G>A

HGVS Expressions

  • NG_007110.2:g.12250G>A
  • NM_001258281.1:c.447+1G>A

Associated Genes

Muts Homolog 2
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Genomic Location

chr2:47410373

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

91155

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
120435.1.01Lebanon2PathogenicLynch Syndrome IAkoum et al, 2006 Proband
120435.1.02Lebanon2PathogenicLynch Syndrome IAkoum et al, 2006 Sister of 120435.1.01
120435.1.03Lebanon2PathogenicLynch Syndrome IAkoum et al, 2006 Brother of 120435.1.01
120435.1.04Lebanon2PathogenicLynch Syndrome IAkoum et al, 2006 Brother of 120435.1.01
120435.1.05Lebanon2PathogenicLynch Syndrome IAkoum et al, 2006 Brother of 120435.1.01
120435.1.06Lebanon2PathogenicLynch Syndrome IAkoum et al, 2006 Brother of 120435.1.01
120435.1.07Lebanon2PathogenicLynch Syndrome IAkoum et al, 2006 First cousin of 120435.1.01
120435.1.08Lebanon2PathogenicLynch Syndrome IAkoum et al, 2006 Son of 120435.1.01
120435.1.09Lebanon1PathogenicAkoum et al, 2006 Unaffected daughter of 120435.1.01
120435.1.10Lebanon1PathogenicAkoum et al, 2006 Unaffected daughter of 120435.1.01
120435.1.11Lebanon1PathogenicAkoum et al, 2006 Unaffected daughter of 120435.1.01
120435.1.12Lebanon1PathogenicAkoum et al, 2006 Unaffected niece of 120435.1.01, daughte...
120435.1.13Lebanon1PathogenicAkoum et al, 2006 Unaffected nephew of 120435.1.01, son of...
120435.1.14Lebanon1PathogenicAkoum et al, 2006 Unaffected nephew of 120435.1.01, son of...
120435.1.15Lebanon1PathogenicAkoum et al, 2006 Unaffected nephew of 120435.1.01, son of...
120435.1.16Lebanon1PathogenicAkoum et al, 2006 Unaffected niece of 120435.1.01, daughte...
120435.1.17Lebanon1PathogenicAkoum et al, 2006 Unaffected niece of 120435.1.01
120435.1.18Lebanon1PathogenicAkoum et al, 2006 Unaffected first cousin of 120435.1.01, ...
120435.1.19Lebanon2PathogenicBreast Cancer; Lynch Syndrome IAkoum et al, 2006; Akoum et al, 2009 Patient belongs to the same family descr...
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