Full data view for gene GMPPB

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_021971.2 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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     
+/. - c.860G>A r.(?) p.(Arg287Gln) Parent #2 - pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 exome sequencing PubMed: Carss 2013 - - Germline yes - - 0 - DNA SEQ, SEQ-NG-I - - MDC - - 2-generation family, 1 affected, unaffected carrier parents F - Italy - 14y 0 - - 1 Johan den Dunnen
+/. - c.860G>A r.(?) p.(Arg287Gln) Parent #2 - pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 exome sequencing PubMed: Carss 2013 - - Germline yes - - 0 - DNA SEQ, SEQ-NG-I - - MDC - - 2-generation family, 1 affected, unaffected carrier parents F - Italy - >10y 0 - - 1 Johan den Dunnen
+?/. - c.860G>A r.(?) p.(Arg287Gln) Parent #2 - likely pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 - - - rs202160208 Germline - - - 0 - DNA PCR, SEQ - - MDC - - - F - United States white - 0 - - 1 Tom Winder
+/. - c.860G>A r.(?) p.(Arg287Gln) Parent #2 - pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 - - - - Germline - - - 0 - DNA PCR, SEQ - - MDC - - - F - United States - - 0 - - 1 Tom Winder
+/. - c.860G>A r.(?) p.(Arg287Gln) Paternal (inferred) - pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 - - - - Germline - - - 0 - DNA PCR, SEQ - - MDC - - - F - United States - - 0 - - 1 Tom Winder
+/. - c.860G>A r.(?) p.(Arg287Gln) Parent #2 - pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 - - - - Germline - - - 0 - DNA SEQ-NG - - MDC - - - F - United States - - 0 - - 1 Tom Winder
+/. - c.860G>A r.(?) p.(Arg287Gln) Maternal (confirmed) - pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 - PubMed: Raphael 2014, Journal: Raphael 2014 - rs202160208 Germline yes - - 0 - DNA SEQ, SEQ-NG - - MEB - PubMed: Raphael 2014, Journal: Raphael 2014 2-generation family, 2 affecteds, unaffected heterozygous carrier parents/sibs F no United States Jewish-Ashkenazi;Ukrain;Poland;Ireland - 0 - - 2 Johan den Dunnen
+/. - c.860G>A r.(?) p.Arg287Gln Unknown - NA g.49759489C>T g.49722056C>T - - GMPPB_000006 in vitro expression cloning C2C12 GMPPB cytoplasmic aggregation PubMed: Carss 2013 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.860G>A r.(?) p.(Arg287Gln) Unknown ACMG likely pathogenic g.49759489C>T - - - GMPPB_000006 - - - - Germline - - - 0 - DNA SEQ - - LGMD2T;MDDGC14 18 - - F - - - - - - - 1 Martin Krenn
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