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

ClinVar

Phenotype

Allele Phenotype (Cis):	N/A
Allele Phenotype (Trans):	N/A
Associated Phenotypes:	Hb F levels [HP:0011904] [OMIM:141749]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	1
Locus:	N/A
Locus Location:	N/A
Size:	4 bp
Located at:	PUM1
Specific Location:	Exon 21

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

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

Created on 2022-11-22 14:33:43, Last reviewed on 2023-01-12 11:44:42 (Show full history)

A/A	Date	Curator(s)	Comments
1	2022-11-22 14:33:43	The IthaGenes Curation Team	Created
2	2022-11-22 16:07:57	The IthaGenes Curation Team	Reviewed. HGVS names
3	2023-01-12 11:44:42	The IthaGenes Curation Team	Reviewed. Common name added.

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