NM_000159.4:c.743C>T

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HGVS Expressions

  • NG_009292.1:g.10153C>T
  • NM_000159.4:c.743C>T
  • NP_000150.1:p.Pro248Leu
  • NC_000019.10:g.12896312C>T

Associated Genes

Glutaryl-CoA Dehydrogenase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

1057516344

Clinvar

370244

Contributors

  • Sayeeda Hana: 10.09.2024

Edit History

  • Sayeeda Hana: 10.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.