NM_005529.7:c.8464+4A>G

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  2. NM_005529.7:c.8464+4A>G

HGVS Expressions

  • NG_016740.1:g.96154A>G
  • NM_005529.7:c.8464+4A>G

Associated Genes

Heparan Sulfate Proteoglycan of Basement Membrane
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Genomic Location

chr1:21846104

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1572204991

Clinvar

14917

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
255800.1.1Tunisia2PathogenicSchwartz-Jampel Syndrome, Type 1Nicole et al. 2000
255800.1.2Tunisia2PathogenicSchwartz-Jampel Syndrome, Type 1Nicole et al. 2000 Sister of 255800.1.1
255800.1.3Tunisia2PathogenicSchwartz-Jampel Syndrome, Type 1Nicole et al. 2000 Brother of 255800.1.1
255800.1.4Tunisia1Nicole et al. 2000 Moother of 255800.1.1
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Contributors

  • Sayeeda Hana: 09.09.2020

Edit History

  • Sayeeda Hana: 10.09.2020
  • Sayeeda Hana: 09.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.