NM_003322.6:c.901C>T

HGVS Expressions

  • NG_009077.1:g.11770C>T
  • NM_003322.6:c.901C>T
  • NP_003313.3:p.Gln301Ter

Associated Genes

Tubby-Like Protein 1
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Genomic Location

chr6:35506101

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

828151

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613843.1Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Patel et al. 2016 Early-onset retinitis pigmentosa
613843.2.1Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009
613843.2.2Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.2.1
613843.2.3Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.2.1
613843.3.1Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Patient 11 from family KKESH-201 in the ...
613843.3.2Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.3.1 Patient 10 from ...
613843.3.3Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.3.1 Patient 20 from ...
613843.3.4Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.3.1 Patient 12 from ...
613843.3.5Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.3.1 Patient 6 from f...
613843.3.6Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.3.1 Patient 5 from f...
613843.3.7Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.3.1 Patient 7 from f...
613843.3.8Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.3.1 Patient 4 from f...
613843.3.9Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.3.1 Patient 8 from f...
613843.4.1Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Patient 8 from family KKESH-203 in the p...
613843.4.2Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Sister of 613843.4.1 Patient 8 from fam...
613843.5.1Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Patient 7 from family KKESH-204 in the p...
613843.5.2Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.5.1 Patient 20 from ...
613843.5.3Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.5.1 Patient 19 from ...
613843.5.4Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.5.1 Patient 18 from ...
613843.5.5Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.5.1 Patient 4 from f...
613843.5.6Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.5.1 Patient 6 from f...
613843.5.7Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.5.1 Patient 42 from ...
613843.5.8Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.5.1 Patient 46 from ...
613843.5.9Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.5.1 Patient 48 from ...
613843.5.10Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.5.1 Patient 26 from ...
613843.5.11Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.5.1 Patient 27 from ...
613843.5.12Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.5.1 Patient 21 from ...
613843.5.13Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.5.1 Patient 15 from ...
613843.6.1Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Patient 4 from family KKESH-215 in the p...
613843.6.2Saudi Arabia2PathogenicLeber Congenital Amaurosis 15Li et al. 2009 Relative of 613843.6.1 Patient 7 from ...
600132.G.2Saudi Arabia4+PathogenicRetinitis Pigmentosa 14Patel et al. 2016 Family with unknown number of affected m...
600132.G.3Saudi Arabia4+PathogenicRetinitis Pigmentosa 14Patel et al. 2016 Family with unknown number of affected m...
613843.G.1Saudi Arabia6PathogenicLeber Congenital Amaurosis 15Patel et al, 2018 3 members of a family
613843.G.2Saudi Arabia26PathogenicLeber Congenital Amaurosis 15Patel et al, 2018 13 members of a family
613843.G.3Saudi Arabia4PathogenicLeber Congenital Amaurosis 15Patel et al, 2018 2 members of a family
613843.G.5Saudi Arabia4+PathogenicLeber Congenital Amaurosis 15Patel et al. 2016 Family with unknown number of affected m...
613843.G.6Saudi Arabia4+PathogenicLeber Congenital Amaurosis 15Patel et al. 2016 Family with unknown number of affected m...
613843.G.7Saudi Arabia4+PathogenicLeber Congenital Amaurosis 15Patel et al. 2016 Family with unknown number of affected m...
613843.G.8Saudi Arabia4+PathogenicLeber Congenital Amaurosis 15Patel et al. 2016 Family with unknown number of affected m...
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