NM_020751.3:c.1075-1G>T

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HGVS Expressions

  • NG_028352.1:g.44007G>T
  • NM_020751.3:c.1075-1G>T
  • NP_065802.1:p.?
  • NC_000013.11:g.39694633G>T

Associated Genes

Component Of Oligomeric Golgi Complex 6
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

781641023

Clinvar

194109

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615328.2Saudi Arabia2Likely PathogenicShaheen SyndromeMonies et al. 2017
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Contributors

  • Asha Deepthi: 02.10.2024

Edit History

  • Asha Deepthi: 02.10.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.