Full data view for gene PABPN1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_004643.3 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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     
+/. 1 c.18_29dup Ala[14] GCG[6]GCA[2]GCG[2] r.(?) p.(Ala8_Ala11dup) Parent #1 - pathogenic g.23790696_23790707dup g.23321487_23321498dup (GCG)6(GCA)2(GCG)2 (Ala[14]) - PABPN1_000012 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. 1 c.18_29dup Ala[14] GCG[6]GCA[2]GCG[2] r.(?) p.(Ala8_Ala11dup) Parent #1 - pathogenic g.23790696_23790707dup g.23321487_23321498dup (GCG)6(GCA)2(GCG)2 (Ala[14]) - PABPN1_000012 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. 1 c.18_29dup Ala[14] GCG[6]GCA[2]GCG[2] r.(?) p.(Ala8_Ala11dup) Parent #1 - pathogenic g.23790696_23790707dup g.23321487_23321498dup (GCG)6(GCA)2(GCG)2 (Ala[14]) - PABPN1_000012 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. 1 c.18_29dup Ala[14] GCG[6]GCA[2]GCG[2] r.(?) p.(Ala8_Ala11dup) Parent #1 - pathogenic g.23790696_23790707dup g.23321487_23321498dup (GCG)6(GCA)2(GCG)2 (Ala[14]) - PABPN1_000012 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. 1 c.18_29dup Ala[14] GCG[6]GCA[2]GCG[2] r.(?) p.(Ala8_Ala11dup) Parent #1 - pathogenic g.23790696_23790707dup g.23321487_23321498dup (GCG)6(GCA)2(GCG)2 (Ala[14]) - PABPN1_000012 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. 1 c.18_29dup Ala[14] GCG[6]GCA[2]GCG[2] r.(?) p.(Ala8_Ala11dup) Parent #1 - pathogenic g.23790696_23790707dup g.23321487_23321498dup (GCG)6(GCA)2(GCG)2 (Ala[14]) - PABPN1_000012 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. 1 c.18_29dup Ala[14] GCG[6]GCA[2]GCG[2] r.(?) p.(Ala8_Ala11dup) Parent #1 - pathogenic g.23790696_23790707dup g.23321487_23321498dup (GCG)6(GCA)2(GCG)2 (Ala[14]) - PABPN1_000012 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. 1 c.18_29dup Ala[14] GCG[6]GCA[2]GCG[2] r.(?) p.(Ala8_Ala11dup) Parent #1 - pathogenic g.23790696_23790707dup g.23321487_23321498dup (GCG)6(GCA)2(GCG)2 (Ala[14]) - PABPN1_000012 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. 1 c.18_29dup Ala[14] GCG[6]GCA[2]GCG[2] r.(?) p.(Ala8_Ala11dup) Parent #1 - pathogenic g.23790696_23790707dup g.23321487_23321498dup (GCG)6(GCA)2(GCG)2 (Ala[14]) - PABPN1_000012 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. 1 c.18_29dup Ala[14] GCG[6]GCA[2]GCG[2] r.(?) p.(Ala8_Ala11dup) Parent #1 - pathogenic g.23790696_23790707dup g.23321487_23321498dup (GCG)6(GCA)2(GCG)2 (Ala[14]) - PABPN1_000012 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. 1 c.18_29dup Ala[14] GCG[6]GCA[2]GCG[2] r.(?) p.(Ala8_Ala11dup) Parent #1 - pathogenic g.23790696_23790707dup g.23321487_23321498dup (GCG)6(GCA)2(GCG)2 (Ala[14]) - PABPN1_000012 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. 1 c.18_29dup Ala[14] GCG[6]GCA[2]GCG[2] r.(?) p.(Ala8_Ala11dup) Parent #1 - pathogenic g.23790696_23790707dup g.23321487_23321498dup (GCG)6(GCA)2(GCG)2 (Ala[14]) - PABPN1_000012 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. 1 c.18_29dup Ala[14] GCG[6]GCA[2]GCG[2] r.(?) p.(Ala8_Ala11dup) Parent #1 - pathogenic g.23790696_23790707dup g.23321487_23321498dup (GCG)6(GCA)2(GCG)2 (Ala[14]) - PABPN1_000012 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - - - - 1 Johan den Dunnen
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