NM_001379614.1:c.526C>T

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HGVS Expressions

  • NG_034025.1:g.12769C>T
  • NM_001379614.1:c.526C>T
  • NP_001366543.1:p.Arg176Trp
  • NC_000001.11:g.8325853C>T

Associated Genes

Solute Carrier Family 45, Member 1
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

781036625

Clinvar

428599

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617532.2.1United Arab Emirates2NALikely PathogenicIntellectual Developmental Disorder with Neuropsychiatric FeaturesSrour et al. 2017 Patient 'B.II-3' in the publication.
617532.2.2United Arab Emirates2NALikely PathogenicIntellectual Developmental Disorder with Neuropsychiatric FeaturesSrour et al. 2017 Patient 'B.II-4' in the publication. Bro...
617532.2.GUnited Arab Emirates4NASrour et al. 2017 Healthy relatives of 617532.2.1 (2 broth...
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Contributors

  • Asha Deepthi: 25.07.2021

Edit History

  • Asha Deepthi: 25.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.