NM_005529.7:c.11208-7G>A

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HGVS Expressions

  • NG_016740.1:g.110455G>A
  • NM_005529.7:c.11208-7G>A
  • NC_000001.11:g.21831803C>T

Associated Genes

Heparan Sulfate Proteoglycan of Basement Membrane
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1336552092

Clinvar

499769

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
255800.2Saudi Arabia2NALikely PathogenicSchwartz-Jampel Syndrome, Type 1Maddirevula et al. 2018
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Contributors

  • Asha Deepthi: 20.12.2021

Edit History

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