NM_004530.6:c.538G>A

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HGVS Expressions

  • NG_008989.1:g.11139G>A
  • NM_004530.6:c.538G>A
  • NP_004521.1:p.Asp180Asn
  • NC_000016.10:g.55485307G>A

Associated Genes

Matrix Metalloproteinase 2
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

786205497

Clinvar

191067

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
259600.1.1Saudi Arabia2NAPathogenicMulticentric Osteolysis, Nodulosis, and ArthropathyMaddirevula et al. 2018
259600.1.2Saudi Arabia2NAPathogenicMulticentric Osteolysis, Nodulosis, and ArthropathyMaddirevula et al. 2018 Relative of 259600.1.1
259600.2.1Egypt2PathogenicMulticentric Osteolysis, Nodulosis, and ArthropathyMakrythanasis et al. 2014
259600.2.2Egypt2PathogenicMulticentric Osteolysis, Nodulosis, and ArthropathyMakrythanasis et al. 2014 Brother of 259600.2.1
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Contributors

  • Asha Deepthi: 03.02.2022

Edit History

  • Sayeeda Hana: 08.03.2022
  • Asha Deepthi: 03.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.