NM_001379614.1:c.629C>T

HGVS Expressions

  • NG_034025.1:g.12872C>T
  • NM_001379614.1:c.629C>T
  • NP_001366543.1:p.Ala210Val
  • NC_000001.11:g.8325956C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

428598

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617532.1.1Palestine2NALikely PathogenicIntellectual Developmental Disorder with Neuropsychiatric FeaturesSrour et al. 2017 Patient 'A.II-2' in the publication.
617532.1.2Palestine2NALikely PathogenicIntellectual Developmental Disorder with Neuropsychiatric FeaturesSrour et al. 2017 Patient 'A.II-3' in the publication. Sis...
617532.1.GPalestine3NASrour et al. 2017 Healthy relatives of 617532.1.1 (sister ...
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