NM_017679.5:c.726T>G

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  2. NM_017679.5:c.726T>G

HGVS Expressions

  • NM_017679.5:c.726T>G
  • NP_060149.3:p.Tyr242Ter
  • NC_000017.11:g.60889759T>G

Associated Genes

BCAS3 Microtubule-Associated Cell Migration Factor
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

993268

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619641.1.1Palestine2NAPathogenicHengel-Maroofian-Schols SyndromeHengel et al. 2021 Patient from 'family 2' in the publicati...
619641.1.2Palestine2NAPathogenicHengel-Maroofian-Schols SyndromeHengel et al. 2021 Brother of 619641.1.1
619641.1.3Palestine2NAPathogenicHengel-Maroofian-Schols SyndromeHengel et al. 2021 Sister of 619641.1.1
619641.1.4Palestine1NAHengel et al. 2021 Father of 619641.1.1
619641.1.5Palestine1NAHengel et al. 2021 Mother of 619641.1.1
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Contributors

  • Asha Deepthi: 16.11.2022

Edit History

  • Asha Deepthi: 16.11.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.