NM_005529.7:c.11000C>T

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  2. NM_005529.7:c.11000C>T

HGVS Expressions

  • NG_016740.1:g.108895C>T
  • NM_005529.7:c.11000C>T
  • NP_005520.4:p.Thr3667Met
  • NC_000001.11:g.21833363G>A

Associated Genes

Heparan Sulfate Proteoglycan of Basement Membrane
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

369084217

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
255800.3Saudi Arabia2NALikely PathogenicSchwartz-Jampel Syndrome, Type 1Maddirevula et al. 2018
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Contributors

  • Asha Deepthi: 20.12.2021

Edit History

  • Rahila Mir: 22.02.2022
  • Asha Deepthi: 20.12.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.