NM_017780.4:c.6112G>A

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HGVS Expressions

  • NG_007009.1:g.179058G>A
  • NM_017780.4:c.6112G>A
  • NP_060250.2:p.Asp2038Asn

Associated Genes

Chromodomain Helicase DNA-Binding Protein 7
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Genomic Location

chr8:60852837

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

747846723

Clinvar

363470

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
214800.1Lebanon1Likely PathogenicCHARGE SyndromeJalkh et al. 2019
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Contributors

  • Pratibha Nair: 26.10.2020

Edit History

  • Pratibha Nair: 26.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.