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.

18 entries on 1 page. Showing entries 1 - 18.
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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.79G>C r.(?) p.(Asp27His) Parent #1 - pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: O'Grady 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - MDC Pat20 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents F - Australia - >24y 0 - - 1 Sandra Cooper
+/. - c.79G>C r.(?) p.(Asp27His) Parent #1 - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Carss 2013 - - Germline yes - - 0 - DNA SEQ - - LGMD2 - - 2-generation family, 1 affected, unaffected carrier parents M - United Kingdom (Great Britain) - >6y 0 - - 1 Johan den Dunnen
+?/. - c.79G>C r.(?) p.(Asp27His) Parent #1 - likely pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - - - rs142336618 Germline - - - 0 - DNA PCR, SEQ - - MDC - - - M - United States white - 0 - - 1 Tom Winder
+/. - c.79G>C r.(?) p.(Asp27His) Unknown - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - - - rs142336618 Germline - - - 0 - DNA PCR, SEQ - - MDDGB - - - - - United States - - 0 - - 1 Tom Winder
+/. - c.79G>C r.(?) p.(Asp27His) Unknown - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - - - rs142336618 Germline - - - 0 - DNA PCR, SEQ - - MDDGB - - - - - United States - - 0 - - 1 Tom Winder
+/. - c.79G>C r.(?) p.(Asp27His) Unknown - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - - - - Germline ? - - 0 - DNA PCR, SEQ - - MDDGB - - - - - United States - - 0 - - 1 Tom Winder
+/. - c.79G>C r.(?) p.(Asp27His) Unknown - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - - - - Germline ? - - 0 - DNA PCR, SEQ - - MDDGB - - - - - United States - - 0 - - 1 Tom Winder
+/. - c.79G>C r.(?) p.(Asp27His) Parent #1 - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Cabrera-Serrano 2015, Journal: Cabrera-Serrano 2015 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - MDDGB - PubMed: Cabrera-Serrano 2015, Journal: Cabrera-Serrano 2015 3-generation family, 2 affected (FM), unaffected heterozygous carrier parents/sibs M no Australia - - 0 - - 2 Johan den Dunnen
+?/. - c.79G>C r.(?) p.(Asp27His) Parent #1 - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Johnson 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MDDG Pat11 PubMed: Johnson 2018 - F - - white - 0 - - 1 Johan den Dunnen
+?/. - c.79G>C r.(?) p.(Asp27His) Parent #1 - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Johnson 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MDDG Pat12 PubMed: Johnson 2018 - M - - white - 0 - - 1 Johan den Dunnen
+?/. - c.79G>C r.(?) p.(Asp27His) Parent #2 - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Johnson 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MDDG Pat13 PubMed: Johnson 2018 - M - - white - 0 - - 1 Johan den Dunnen
+?/. - c.79G>C r.(?) p.(Asp27His) Unknown - likely pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 combination of variants not reported PubMed: Topf 2020 - - Germline - 3/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 3 Johan den Dunnen
?/. - c.79G>C r.(?) p.(Asp27His) Unknown - VUS g.49761081C>G - GMPPB(NM_013334.3):c.79G>C (p.D27H) - GMPPB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.79G>C r.(?) p.(Asp27His) Unknown - pathogenic g.49761081C>G - GMPPB(NM_013334.3):c.79G>C (p.D27H) - GMPPB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.79G>C r.(?) p.Asp27His Unknown - NA g.49761081C>G g.49723648C>G - - GMPPB_000004 in vitro expression cloning C2C12 GMPPB normal distribution PubMed: Carss 2013 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.79G>C r.(?) p.(Asp27His) Unknown ACMG likely pathogenic g.49761081C>G - - - GMPPB_000004 - - - - Germline - - - 0 - DNA SEQ - - LGMD2T;MDDGC14 7 - - F - - - - - - - 1 Martin Krenn
+/. - c.79G>C r.(?) p.(Asp27His) Unknown ACMG pathogenic g.49761081C>G - - - GMPPB_000004 - - - - Germline - - - 0 - DNA SEQ - - LGMD2T;MDDGC14 18 - - F - - - - - - - 1 Martin Krenn
+?/. - c.79G>C r.(?) p.(Asp27His) Unknown - likely pathogenic g.49761081C>G - GMPPB(NM_013334.3):c.79G>C (p.D27H) - GMPPB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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