Full data view for gene IGHMBP2

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_002180.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 3 c.439C>T r.(?) p.(Arg147*) Unknown - pathogenic g.68675795C>T g.68908327C>T - - IGHMBP2_000028 - PubMed: Grohmann, 2003 - - Germline - - - 0 - DNA SEQ - - DSMA1 15 PubMed: Grohmann, 2003 - F - Spain - - 0 - - 1 Jorge Oliveira
+/. 3 c.439C>T r.(?) p.(Arg147*) Unknown - pathogenic g.68675795C>T g.68908327C>T - - IGHMBP2_000028 - PubMed: Grohmann, 2003 - - Germline - - - 0 - DNA SEQ - - DSMA1 28 PubMed: Grohmann, 2003 - F - Germany - - 0 - - 1 Jorge Oliveira
+/. - c.439C>T r.(?) p.(Arg147*) Parent #1 - pathogenic g.68675795C>T g.68908327C>T - - IGHMBP2_000028 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat75 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - 1 Johan den Dunnen
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