NM_003413.3:c.1222A>T

HGVS Expressions

  • NG_008115.2:g.7937A>T
  • NM_003413.3:c.1222A>T
  • NP_003404.1:p.Lys408Ter

Associated Genes

ZIC Family, Member 3
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Genomic Location

ChrX:137569063

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

11435

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
306955.1.1Lebanon1PathogenicHeterotaxy, Visceral, 1, X-LinkedMégarbané et al, 2000 Maternal cousin of 306955.1.2
306955.1.2Lebanon1PathogenicHeterotaxy, Visceral, 1, X-LinkedMégarbané et al, 2000 Maternal cousin of 306955.1.1
306955.1.3Lebanon1PathogenicHeterotaxy, Visceral, 1, X-LinkedMégarbané et al, 2000 Maternal uncle of 306955.1.1 and 306955...
306955.1.4Lebanon1PathogenicMégarbané et al, 2000 Mother of 306955.1.1
306955.1.5Lebanon1PathogenicMégarbané et al, 2000 Mother of 306955.1.2
306955.1.6Lebanon1PathogenicMégarbané et al, 2000 Grandmother of 306955.1.1 and 306955.1....
306955.1.7Lebanon1PathogenicMégarbané et al, 2000 Maternal Uncle of 306955.1.1 306955.1.2 ...
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