NM_000553.6:c.4129G>A

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HGVS Expressions

  • NG_008870.1:g.138907G>A
  • NM_000553.6:c.4129G>A
  • NP_000544.2:p.Gly1377Ser
  • NC_000008.11:g.31167168G>A

Associated Genes

RECQ Protein-Like 2
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

760127655

Clinvar

528107

Epidemiology in the Arab World

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Contributors

  • Asha Deepthi: 26.01.2021

Edit History

  • Asha Deepthi: 26.01.2021
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.