Melusine NM_000558.5:c.343C>T

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  2. Melusine NM_000558.5:c.343C>T

HGVS Expressions

  • NG_059186.1:g.5675C>T
  • NM_000558.5:c.343C>T
  • NP_000549.1:p.Pro115Ser

Associated Genes

Hemoglobin - Alpha Locus 1
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Genomic Location

chr16:177325

Clinvar Clinical Significance

Pathogenic, Uncertain Significance

Variant Type

Substitution

dbSNP

34472107

Clinvar

15857

Contributors

  • Sayeeda Hana: 25.11.2020

Edit History

  • Sayeeda Hana: 29.11.2020
  • Sayeeda Hana: 25.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.