NM_005529.7:c.9970G>A

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  2. NM_005529.7:c.9970G>A

HGVS Expressions

  • NG_016740.1:g.103253G>A
  • NM_005529.7:c.9970G>A
  • NP_005520.4:p.Gly3324Arg
  • NC_000001.11:g.21839005C>T

Associated Genes

Heparan Sulfate Proteoglycan of Basement Membrane
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1294413650

Clinvar

982057

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
224410.2Saudi Arabia2NALikely PathogenicDyssegmental Dysplasia, Silverman-Handmaker TypeMaddirevula 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.