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.

59 entries on 1 page. Showing entries 1 - 59.
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?/. 1 c.= Ala[10] r.(?) p.(Ala2[10]) Parent #1 - VUS g.(23790682_23790711)= - GCR[10] - PABPN1_000000 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. Journal: de Leeuw 2018 - - Germline - - - - - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam02Pat49 Journal: de Leeuw 2018 - F - Netherlands - - - yes - 1 Vered Raz
?/. 1 c.= Ala[10] r.(?) p.(Ala2[10]) Parent #1 - VUS g.(23790682_23790711)= - GCR[10] - PABPN1_000000 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. Journal: de Leeuw 2018 - - Germline - - - - - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam06Pat13 Journal: de Leeuw 2018 - F - Netherlands - - - yes - 1 Vered Raz
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control - PubMed: Brais 1998 father of 09462747-PatIX M - Canada French - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control - PubMed: Brais 1998 mother of 09462747-PatIX F - Canada French - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Maternal (confirmed) - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 brother of 09462747-FamDPatV M - Canada French - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 father of 09462747-FamPatII M - Canada French - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 mother of 09462747-FamPatII F - Canada French - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 father of 09462747-FamB.II1 M - Canada French - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 mother of 09462747-FamB.II1 F - Canada French - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: Robinson 2006 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2006 3-generation family, 5 affecteds F - United Kingdom (Great Britain) Europe NW - - - - 5 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 4 families / 1 country - - - - - - - - 4 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 29 families / 5 countries - - - - - - - - 29 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 19 families 8 countries - - - - - - - - 19 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 16 families / 6 countries - - - - - - - - 16 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 5 families / 3 countries - - - - - - - - 5 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 1 family / 1 countries - - - - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - - - - 20 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - - - - 6 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - - - - 4 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - Healthy/Control - PubMed: Brais 1998 - - - Canada French-Canadian - - - - 2 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - - - - 18 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - - - - 6 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - - - - 7 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - - - - 5 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - - - - 4 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - - - - 4 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 family M - Canada French - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 70 families - - Canada French - - - - 271 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Maternal (confirmed) - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 family, brother of 09462747-FamF151s M - Canada French - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Maternal (confirmed) - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 family, sister of 09462747-FamF151b F - Canada French - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Scacheri 1999 4-generation family, 7 affecteds - - United States Cajun - - - - 7 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 family history OPMD, no surviving relatives - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Scacheri 1999 4-generation family, 8 affecteds - - United States Cajun - - - - 8 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Scacheri 1999 3-generation family, 4 affecteds - - United States Cajun - - - - 4 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Scacheri 1999 - - - Italy - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Schober 2001 5-generation family, 7 affecteds - - Germany - - - - - 7 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: Nakamoto 2002 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Nakamoto 2002 - - - Japan - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: Nakamoto 2002 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Nakamoto 2002 patient and affected sister - - Japan - - - - - 2 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - F - Netherlands - - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 father of 09462747-FamB.II1 M - Canada French - - - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - - - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 mother of 09462747-FamB.II1 F - Canada French - - - - 1 Johan den Dunnen
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