NM_001166220.1:c.363C>G

HGVS Expressions

  • NG_015805.1:g.9132C>G
  • NM_001166220.1:c.363C>G
  • NP_001159692.1:p.Ile121Met

Associated Genes

T-Box 20
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Genomic Location

Chr7:35249968

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

4634

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611363.1.1Lebanon2PathogenicAtrial Septal Defect 4Posch et al, 2010
611363.1.2Lebanon1PathogenicPosch et al, 2010 Sister of 611363.1.1
611363.1.3Lebanon1PathogenicPosch et al, 2010 Mother of 611363.1.1 and 611363.1.2
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