NM_005529.6:c.4740G>A

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  2. NM_005529.6:c.4740G>A

HGVS Expressions

  • NG_016740.1:g.78158G>A
  • NM_005529.6:c.4740G>A
  • NP_005520.4:p.Ser1580=

Associated Genes

Heparan Sulfate Proteoglycan of Basement Membrane
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Genomic Location

chr1:21864100

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
255800.G.1Tunisia4+Likely PathogenicSchwartz-Jampel Syndrome, Type 1Nicole et al. 2000 Family with unknown number of affected i...
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Contributors

  • Sayeeda Hana: 10.09.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 10.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.