IthaID: 3979
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | PUM1:p.H1090Pfs*16 | HGVS Name: | NC_000001.11:g.30936810_30936813del, NM_001020658.2(PUM1):c.3267_3270del |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Reported in a heterozygous state in a 5-year-old with elevated HbF levels.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
- Elagooz R, Dhara AR, Gott RM, Adams SE, White RA, Ghosh A, Ganguly S, Man Y, Owusu-Ansah A, Mian OY, Gurkan UA, Komar AA, Ramamoorthy M, Gnanapragasam MN, PUM1 mediates the posttranscriptional regulation of human fetal hemoglobin., Blood Adv, 2022 PubMed
Created on 2022-11-22 14:33:43,
Last reviewed on 2023-01-12 11:44:42 (Show full history)
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