NM_001127670.3:c.20C>T

HGVS Expressions

  • NG_009091.1:g.66701C>T
  • NM_001127670.3:c.20C>T
  • NP_001121142.1:p.Thr7Ile
  • NC_000021.9:g.34449615G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

13476

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612347.1.1Lebanon1PathogenicJervell and Lange-Nielsen Syndrome 2Schulze-Bahr et al., 1997a; Schulze-Bahr et al., 1997b
612347.1.2Lebanon1PathogenicJervell and Lange-Nielsen Syndrome 2Schulze-Bahr et al., 1997a; Schulze-Bahr et al., 1997b Sibling of 612347.1.1
612347.1.3Lebanon1PathogenicJervell and Lange-Nielsen Syndrome 2Schulze-Bahr et al., 1997a; Schulze-Bahr et al., 1997b Sibling of 612347.1.1
612347.1.5Lebanon1PathogenicSchulze-Bahr et al., 1997a; Schulze-Bahr et al., 1997b Father of 612347.1.1, 612347.1.2 and 612...
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