NM_000329.3:c.643+1G>C

HGVS Expressions

  • NG_008472.2:g.14108G>C
  • NM_000329.3:c.643+1G>C
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Genomic Location

chr1:68440852

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

98881

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204100.1.1Saudi Arabia2PathogenicLeber Congenital Amaurosis 2Patel et al, 2018
204100.11.1Saudi Arabia2Likely PathogenicLeber Congenital Amaurosis 2Li et al. 2009
204100.11.2Saudi Arabia2Likely PathogenicLeber Congenital Amaurosis 2Li et al. 2009 Relative of 204100.11.1
204100.11.3Saudi Arabia2Likely PathogenicLeber Congenital Amaurosis 2Li et al. 2009 Relative of 204100.11.1
204100.11.4Saudi Arabia2Likely PathogenicLeber Congenital Amaurosis 2Li et al. 2009 Relative of 204100.11.1
204100.11.5Saudi Arabia2Likely PathogenicLeber Congenital Amaurosis 2Li et al. 2009 Relative of 204100.11.1
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