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.553C>T r.(?) p.(Arg185Cys) Both (homozygous) - pathogenic (recessive) g.49760037G>A g.49722604G>A - - GMPPB_000002 exome sequencing PubMed: Carss 2013 - - Unknown yes - - 0 - DNA SEQ, SEQ-NG-I - - MDC Pat3/Pat31 PubMed: Carss 2013, PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Mexico - >16y 0 - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Cys) Paternal (inferred) - pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 - PubMed: Carss 2013 - - Unknown yes - - 0 - DNA SEQ - - MDC - - 2-generation family, 1 affected, unaffected carrier mother F - Mexico - >13y 0 - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Cys) Paternal (confirmed) - pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 exome sequencing PubMed: Carss 2013 - - Germline yes - - 0 - DNA SEQ, SEQ-NG-I - - LGMD2 - - 2-generation family, 1 affected, unaffected carrier parents M - Egypt - >18y 0 - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Cys) Paternal (inferred) - pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 - - - - Germline - - - 0 - DNA PCR, SEQ - - MDC - - - F yes United States Hispanic - 0 - - 1 Tom Winder
+/. - c.553C>T r.(?) p.(Arg185Cys) Maternal (confirmed) - pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 - PubMed: Carss 2013 - - Germline yes - - 0 - DNA SEQ - - MDC - - 2-generation family, 1 affected, unaffected carrier mother F - Mexico - >13y 0 - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Cys) Maternal (confirmed) - pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 exome sequencing PubMed: Carss 2013 - - Germline yes - - 0 - DNA SEQ, SEQ-NG-I - - LGMD2 - - 2-generation family, 1 affected, unaffected carrier parents M - Egypt - >18y 0 - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Cys) Maternal (inferred) - pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 - - - - Germline - - - 0 - DNA PCR, SEQ - - MDC - - - F yes United States Hispanic - 0 - - 1 Tom Winder
-?/. - c.553C>T r.(?) p.Arg185Cys Unknown - NA g.49760037G>A g.49722604G>A - - GMPPB_000002 in vitro expression cloning C2C12 GMPPB normal distribution PubMed: Carss 2013 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.553C>T r.(?) p.(Arg185Cys) Both (homozygous) - likely pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 166-gene panel NMD P165 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - 0 - - 1 Johan den Dunnen
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