NM_004870.3:c.377A>C

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HGVS Expressions

  • NG_009204.1:g.8120A>C
  • NM_004870.3:c.377A>C
  • NP_004861.2:p.Gln126Pro
  • NC_000017.11:g.7586766A>C

Associated Genes

Mannose-P-Dolichol Utilization Defect 1
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Clinvar Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1555570110

Clinvar

495319

Contributors

  • Sayeeda Hana: 31.03.2021

Edit History

  • Sayeeda Hana: 31.03.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.