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.

51 entries on 1 page. Showing entries 1 - 51.
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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.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Paternal (confirmed) - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 - PubMed: Brais 1998 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 brother of 09462747-FamDPatV M - Canada French - - - - 1 Johan den Dunnen
+/. 1 c.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Paternal (confirmed) - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 - PubMed: Brais 1998, OMIM:var0002 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 brother of 09462747-FamDPatVIII M - Canada French - - - - 1 Johan den Dunnen
+/. 1 c.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Parent #1 - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 - PubMed: Brais 1998 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 father of 09462747-FamPatII M - Canada French - - - - 1 Johan den Dunnen
+/. 1 c.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Parent #1 - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 - PubMed: Brais 1998 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 mother of 09462747-FamPatII F - Canada French - - - - 1 Johan den Dunnen
+/. 1 c.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Paternal (confirmed) - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 - PubMed: Brais 1998, OMIM:var0002 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 - ? - Canada French - - - - 1 Johan den Dunnen
+/. 1 c.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Maternal (confirmed) - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 - PubMed: Brais 1998, OMIM:var0002 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 - ? - Canada French - - - - 1 Johan den Dunnen
+/. 1 c.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Parent #1 - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 - PubMed: Brais 1998 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 father of 09462747-FamB.II1 M - Canada French - - - - 1 Johan den Dunnen
+/. 1 c.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Parent #1 - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 - PubMed: Brais 1998 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 mother of 09462747-FamB.II1 F - Canada French - - - - 1 Johan den Dunnen
+/. 1 c.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Paternal (confirmed) - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 - PubMed: Brais 1998, OMIM:var0002 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 - ? - Canada French - - - - 1 Johan den Dunnen
+/. 1 c.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Maternal (confirmed) - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 - PubMed: Brais 1998, OMIM:var0002 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 - ? - Canada French - - - - 1 Johan den Dunnen
+/. 1 c.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Paternal (confirmed) - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 - PubMed: Brais 1998, OMIM:var0002 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 - ? - Canada French - - - - 1 Johan den Dunnen
+/. 1 c.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Paternal (confirmed) - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 - PubMed: Brais 1998, OMIM:var0002 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 - ? - Canada French - - - - 1 Johan den Dunnen
+/. 1 c.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Paternal (confirmed) - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 - PubMed: Brais 1998, OMIM:var0002 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 - ? - Canada French - - - - 1 Johan den Dunnen
+/. 1 c.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Parent #1 - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 - PubMed: Brais 1998 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 29 families / 5 countries - - - - - - - - 29 Johan den Dunnen
+/. 1 c.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Parent #1 - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 not in 400 control chromosomes PubMed: Robinson 2005 - - Germline - 21/178 - - - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - - - - 20 Johan den Dunnen
+/. 1 c.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Parent #1 - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 - PubMed: Brais 1998, OMIM:var0002 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 family M - Canada French - - - - 1 Johan den Dunnen
+/. 1 c.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Parent #1 - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 shared single haplotype PubMed: Brais 1998, OMIM:var0002 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 70 families - - Canada French - - - - 271 Johan den Dunnen
+/. 1 c.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Parent #1 - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 not in 400 control chromosomes PubMed: Robinson 2005 - - Germline - 21/178 - - - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 1 c.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Parent #1 - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 - PubMed: Brais 1998 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 father of 09462747-FamB.II1 M - Canada French - - - - 1 Johan den Dunnen
+/. 1 c.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Parent #1 - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 - PubMed: Brais 1998 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 mother of 09462747-FamB.II1 F - Canada French - - - - 1 Johan den Dunnen
+/. 1 c.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Paternal (confirmed) - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 - PubMed: Brais 1998, OMIM:var0002 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 - F - Canada French - - - - 1 Johan den Dunnen
+/. 1 c.15_23dup Ala[13] GCG[9] r.(?) p.(Ala9_Ala11dup) Maternal (confirmed) - pathogenic g.23790693_23790701dup g.23321484_23321492dup (GCG)9 (Ala[13]) - PABPN1_000003 - PubMed: Brais 1998, OMIM:var0002 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 - F - Canada French - - - - 1 Johan den Dunnen
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; homozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease D3 PubMed: Braverman 2017 family D (BJ) brother of 4 and 5 M yes - - 56y - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; homozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease D4 PubMed: Braverman 2017 family D (BJ) sister of 5 and 3 F yes - - 51y - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; homozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease D5 PubMed: Braverman 2017 family D (BJ) brother of 4 and 3 M yes - - 50y - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD D1 PubMed: Braverman 2017 family D (BJ) father of 3, 4, 5 M yes - - 72y - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD D2 PubMed: Braverman 2017 family D (BJ) mother of 3, 4, 5 F yes - - 89y - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD A2 PubMed: Braverman 2017 family D (BJ) son of 5 M - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease A1 PubMed: Braverman 2017 family A, mother of 2 and 3 F - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD A2 PubMed: Braverman 2017 family A, daughter1 of 1 F - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD A3 PubMed: Braverman 2017 family A, daughter2 of 1 F - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Both (homozygous) - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; not tested (extrapolated as homozygous) PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease B PubMed: Braverman 2017 family B F - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD C PubMed: Braverman 2017 family C M - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; not tested (extrapolated as heterozygous) PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD E PubMed: Braverman 2017 family E F - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; not tested (extrapolated as heterozygous) PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD F PubMed: Braverman 2017 family F F - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD G PubMed: Braverman 2017 family G M - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD H PubMed: Braverman 2017 family H M - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD I PubMed: Braverman 2017 family I F - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; not tested (extrapolated as heterozygous) PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD J PubMed: Braverman 2017 family J F - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD K PubMed: Braverman 2017 family K F - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD L PubMed: Braverman 2017 family L F - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; not tested (extrapolated as heterozygous) PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD M PubMed: Braverman 2017 family M F - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD N PubMed: Braverman 2017 family N F - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD O PubMed: Braverman 2017 family O F - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD P PubMed: Braverman 2017 family P F - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD Q PubMed: Braverman 2017 family Q F - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD R PubMed: Braverman 2017 family R M - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD S PubMed: Braverman 2017 family S M - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD T PubMed: Braverman 2017 family T F - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; not tested (extrapolated as heterozygous) PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD U PubMed: Braverman 2017 family U M - - - - - - - 1 LOVD
+/. - c.15_23dup - r.(?) p.(Ala9_Ala11dup) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; not tested (extrapolated as heterozygous) PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD V PubMed: Braverman 2017 family V M - - - - - - - 1 LOVD
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