NM_000159.4:c.1247C>T

HGVS Expressions

  • NG_009292.1:g.13312C>T
  • NM_000159.4:c.1247C>T
  • NP_000150.1:p.Thr416Ile
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Genomic Location

chr19:12899471

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

2084

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231670.4.1Palestine2PathogenicGlutaric Acidemia IAnikster et al. 1996; Amir et al, 1989 The patient had 8 additional siblings th...
231670.4.2Palestine2PathogenicGlutaric Acidemia IAnikster et al. 1996; Amir et al, 1989 Sister of 231670.4.1
231670.4.3Palestine2PathogenicGlutaric Acidemia IAnikster et al. 1996; Amir et al, 1989 Brother of 231670.4.1
231670.4.4Palestine2PathogenicGlutaric Acidemia IAnikster et al. 1996; Amir et al, 1989 Father of 231670.4.1
231670.4.5Palestine1Anikster et al. 1996; Amir et al, 1989 Mother of 231670.4.1
231670.8.1Palestine2PathogenicGlutaric Acidemia IAnikster et al. 1996
231670.8.2Palestine2PathogenicGlutaric Acidemia IAnikster et al. 1996 Sister of 231670.8.1
231670.8.3Palestine1Anikster et al. 1996 Father of 231670.8.1
231670.8.4Palestine1Anikster et al. 1996 Mother of 231670.8.1
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