Full data view for gene SMN1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000344.3 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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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     
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #1 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - - - - Germline - - - - - DNA SEQ - - SMA - - 165 unrelated families Portugal M - Portugal - - - - - 165 Rosário dos Santos
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - - - - Germline - - - - - DNA SEQ - - SMA - - 165 unrelated families Portugal M - Portugal - - - - - 165 Rosário dos Santos
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #1 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Ogino 2004 - - Germline - - - - - DNA SEQ - - SMA - PubMed: Ogino 2004 - - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Ogino 2004 - - Germline - - - - - DNA SEQ - - SMA - PubMed: Ogino 2004 - - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Gambardella 1998 - - Germline - - - - - DNA SEQ - - SMA3 - PubMed: Gambardella 1998 del NAIP exon 5 M - Italy - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Paternal (confirmed) - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Parsons 1998 - - Germline - - - - - DNA SEQ - - SMA1 - PubMed: Parsons 1998 - - - United States - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Paternal (confirmed) - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Hahnen 1997 - - Germline - - - - - DNA SEQ - - SMA2 - PubMed: Hahnen 1997 - - - Germany - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Paternal (confirmed) - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Hahnen 1997 - - Germline - - - - - DNA SEQ - - SMA3 - PubMed: Hahnen 1997 - - - Germany - - - - - 2 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Maternal (confirmed) - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Hahnen 1997 - - Germline - - - - - DNA SEQ - - SMA3 - PubMed: Hahnen 1997 - - - Australia - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Lefebvre 1995 - - Germline - - - - - DNA SEQ - - SMA1 - PubMed: Lefebvre 1995 - - - France - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Parsons 1998 - - Germline - - - - - DNA SEQ - - SMA2 - PubMed: Parsons 1998 - - - United States - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Lorson 1999 - - Germline - - - - - DNA SEQ - - SMA3 - PubMed: Lorson 1999 - - - United States - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Sossi 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SMA1 - PubMed: Sossi 2001 - F - Italy - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Sossi 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SMA2 - PubMed: Sossi 2001 - M - Italy - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Sossi 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SMA3 - PubMed: Sossi 2001 - F - Italy - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Bussaglia 1995, PubMed: Cusco 2003 - - Germline - - - - - DNA SEQ - - SMA1 - PubMed: Bussaglia 1995, PubMed: Cusco 2003 - - - Spain - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Bussaglia 1995, PubMed: Cusco 2003 - - Germline - - - - - DNA SEQ - - SMA2 - PubMed: Bussaglia 1995, PubMed: Cusco 2003 3 patients (1 early onset) - - Spain - - - - - 3 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Bussaglia 1995, PubMed: Cusco 2003 - - Germline - - - - - DNA SEQ - - SMA3 - PubMed: Bussaglia 1995, PubMed: Cusco 2003 8 patients (2 early onset) - - Spain - - - - - 8 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Bussaglia 1995, PubMed: Cusco 2003 - - Germline - - - - - DNA SEQ - - SMA4 - PubMed: Bussaglia 1995, PubMed: Cusco 2003 2 patients F - Spain - - - - - 2 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Sun 2005 - - Germline - - - - - DNA SEQ - - SMA2 - PubMed: Sun 2005 - - - Germany - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Sun 2005 - - Germline - - - - - DNA SEQ - - SMA3 - PubMed: Sun 2005 - - - Germany - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Sun 2005 - - Germline - - - - - DNA SEQ - - SMA3 - PubMed: Sun 2005 - - - Germany - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Sun 2005 - - Germline - - - - - DNA SEQ - - SMA - PubMed: Sun 2005 - - - Germany - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Sun 2005 - - Germline - - - - - DNA SEQ - - SMA3 - PubMed: Sun 2005 - - - Germany - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Paternal (confirmed) - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Cusco 2004 - - Germline - - - - - DNA SEQ - - SMA1 - PubMed: Cusco 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Cusco 2004 - - Germline - - - - - DNA SEQ - - SMA1 - PubMed: Cusco 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - - - - Germline - - - - - DNA SEQ - - SMA - - - M - Portugal - - - - - 1 Rosário dos Santos
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - - - - Germline - - - - - DNA, RNA SEQ, RT-PCR - - SMA - - - M - Portugal - - - - - 1 Rosário dos Santos
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #1 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - - - - Germline - - - - - DNA, RNA SEQ, RT-PCR - - SMA - - 11 unrelated patients - - Portugal - - - - - 11 Rosário dos Santos
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #1 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Ogino 2004 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Ogino 2004 - - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #1 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Ogino 2004 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Ogino 2004 - - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Wirth 1999 - - Germline - - - - - DNA SEQ - - SMA3 - PubMed: Wirth 1999 - - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Wirth 1999 - - Germline - - - - - DNA SEQ - - SMA3 - PubMed: Wirth 1999 - - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Tsai 2001 - - Germline - - - - - DNA SEQ - - SMA - PubMed: Tsai 2001 - - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Martin 2002 - - Germline - - - - - DNA SEQ - - SMA - PubMed: Martin 2002 3 unrelated cases - - - - - - - - 3 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - Clermont 1997, PubMed: Wirth 2000 - - Germline - - - - - DNA SEQ - - SMA1 - Clermont 1997, PubMed: Wirth 2000 - - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Brahe 1996 - - Germline - - - - - DNA SEQ - - SMA1 - PubMed: Brahe 1996 - - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Wirth 1999 - - Germline - - - - - DNA SEQ - - SMA - PubMed: Wirth 1999 2 unrelated cases - - - - - - - - 2 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Parsons 1998, PubMed: Parsons 1998 - - Germline - - - - - DNA SEQ - - SMA - PubMed: Parsons 1998, PubMed: Parsons 1998 3 unrelated cases - - - - - - - - 3 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Wirth 1999 - - Germline - - - - - DNA SEQ - - SMA2 - PubMed: Wirth 1999 - - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - Clermont 1997, PubMed: Wirth 2000 - - Germline - - - - - DNA SEQ - - SMA1 - Clermont 1997, PubMed: Wirth 2000 - - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Parsons 1998 - - Germline - - - - - DNA SEQ - - SMA3 - PubMed: Parsons 1998 2 unrelated patients - - United States - - - - - 2 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Wirth 1999 - - Germline - - - - - DNA SEQ - - SMA1 - PubMed: Wirth 1999 2 unrelated cases - - - - - - - - 2 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Tsai 2001 - - Germline - - - - - DNA SEQ - - SMA - PubMed: Tsai 2001 - - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Rochette 1997 - - Germline - - - - - DNA SEQ - - SMA3 - PubMed: Rochette 1997 - - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Martin 2002 - - Germline - - - - - DNA SEQ - - SMA3 - PubMed: Martin 2002 - - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - Clermont 1997, PubMed: Martin 2002, PubMed: Parsons 1996, PubMed: Wirth 2000 - - Germline - - - - - DNA SEQ - - SMA - Clermont 1997, PubMed: Martin 2002, PubMed: Parsons 1996, PubMed: Wirth 2000 7 unrelated cases - - - - - - - - 7 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: McAndrew 1997 - - Germline - - - - - DNA SEQ - - SMA3 - PubMed: McAndrew 1997 - - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Skordis 2001 - - Germline - - - - - DNA SEQ - - SMA2 - PubMed: Skordis 2001 2 unrelated cases - - - - - - - - 2 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Rochette 1997, PubMed: Wirth 2000, PubMed: Wirth 1999 - - Germline - - - - - DNA SEQ - - SMA - PubMed: Rochette 1997, PubMed: Wirth 2000, PubMed: Wirth 1999 8 unrelated cases - - - - - - - - 8 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Hahnen 1997, PubMed: Parsons 1998, PubMed: Wirth 1999 - - Germline - - - - - DNA SEQ - - SMA - PubMed: Hahnen 1997, PubMed: Parsons 1998, PubMed: Wirth 1999 2 unrelated cases - - - - - - - - 2 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Skordis 2001 - - Germline - - - - - DNA SEQ - - SMA3 - PubMed: Skordis 2001 - - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Martin 2002 - - Germline - - - - - DNA SEQ - - SMA1 - PubMed: Martin 2002 - - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Lefebvre 1995, PubMed: Wirth 2000 - - Germline - - - - - DNA SEQ - - SMA1 - PubMed: Lefebvre 1995, PubMed: Wirth 2000 - - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Wang 1998 - - Germline - - - - - DNA SEQ - - SMA - PubMed: Wang 1998 2 unrelated cases - - - - - - - - 2 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Talbot 1997 - - Germline - - - - - DNA SEQ - - SMA1 - PubMed: Talbot 1997 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 - PubMed: Wirth 1999 - - Germline - - - - - DNA SEQ - - SMA1 - PubMed: Wirth 1999 - - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Maternal (confirmed) - pathogenic g.(?_70220768)_(70248837_?)del - 1 copy SMN1 - SMN1_000036 2 copies SMN2 gene PubMed: Bai 2014 - - Germline yes - - - - DNA, RNA MLPA, RT-PCR, SEQ - - SMA3 - PubMed: Bai 2014 - M - China - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Maternal (confirmed) - pathogenic g.(?_70220768)_(70248837_?)del - 1 copy SMN1 - SMN1_000036 2 copies SMN2 gene PubMed: Bai 2014 - - Germline yes - - - - DNA, RNA MLPA, RT-PCR, SEQ - - SMA1 - PubMed: Bai 2014 - M - China - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Maternal (confirmed) - pathogenic g.(?_70220768)_(70248837_?)del - 1 copy SMN1 - SMN1_000036 3 copies SMN2 gene PubMed: Bai 2014 - - Germline yes - - - - DNA, RNA MLPA, RT-PCR, SEQ - - SMA2 - PubMed: Bai 2014 - F - China - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Maternal (confirmed) - pathogenic g.(?_70220768)_(70248837_?)del - 1 copy SMN1 - SMN1_000036 2 copies SMN2 gene PubMed: Bai 2014 - - Germline yes - - - - DNA, RNA MLPA, RT-PCR, SEQ - - SMA1 - PubMed: Bai 2014 - F - China - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Maternal (confirmed) - pathogenic g.(?_70220768)_(70248837_?)del - 1 copy SMN1 - SMN1_000036 3 copies SMN2 gene PubMed: Bai 2014 - - Germline yes - - - - DNA, RNA MLPA, RT-PCR, SEQ - - SMA2 - PubMed: Bai 2014 - F - China - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Paternal (confirmed) - pathogenic g.(?_70220768)_(70248837_?)del - 1 copy SMN1 - SMN1_000036 2 copies SMN2 gene PubMed: Bai 2014 - - Germline yes - - - - DNA, RNA MLPA, RT-PCR, SEQ - - SMA1 - PubMed: Bai 2014 - F - China - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Maternal (confirmed) - pathogenic g.(?_70220768)_(70248837_?)del - 1 copy SMN1 - SMN1_000036 3 copies SMN2 gene PubMed: Bai 2014 - - Germline yes - - - - DNA, RNA MLPA, RT-PCR, SEQ - - SMA2 - PubMed: Bai 2014 - M - China - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Maternal (confirmed) - pathogenic g.(?_70220768)_(70248837_?)del - 1 copy SMN1 - SMN1_000036 3 copies SMN2 gene PubMed: Bai 2014 - - Germline yes - - - - DNA, RNA MLPA, RT-PCR, SEQ - - SMA2 - PubMed: Bai 2014 - M - China - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Maternal (confirmed) - pathogenic g.(?_70220768)_(70248837_?)del - 1 copy SMN1 - SMN1_000036 2 copies SMN2 gene PubMed: Bai 2014 - - Germline yes - - - - DNA, RNA MLPA, RT-PCR, SEQ - - SMA1 - PubMed: Bai 2014 - M - China - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #1 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 1 copy SMN2 PubMed: Yamamoto 2013 - - Germline yes - - - - DNA PCRq - - SMA3 - PubMed: Yamamoto 2013 - M no Japan Japanese - - - - 1 Hisahide Nishio
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #2 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 3 copies SMN2 PubMed: Kotani 2007, PubMed: Yamamoto 2013 - - Unknown - - - - - DNA PCRq - - SMA1 - PubMed: Kotani 2007, PubMed: Yamamoto 2013 - F - Japan - - - - - 1 Hisahide Nishio
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #1 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 3 copies SMN2 PubMed: Kotani 2007, PubMed: Yamamoto 2013 - - Unknown - - - - - DNA PCRq - - SMA1 - PubMed: Kotani 2007, PubMed: Yamamoto 2013 - M - Japan - - - - - 1 Hisahide Nishio
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #1 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 SMN2 2 copies PubMed: Yamamoto 2013 - - Unknown - - - - - DNA PCRq - - SMA1 - PubMed: Yamamoto 2013 - M - Japan - >19y - - - 1 Hisahide Nishio
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #1 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 SMN2 1 copy PubMed: Yamamoto 2013 - - Unknown - - - - - DNA PCRq - - SMA2 - PubMed: Yamamoto 2013 - F - Japan - >7y - - - 1 Hisahide Nishio
+/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0 Parent #1 - pathogenic g.(?_70220768)_(70248837_?)del - - - SMN1_000036 SMN2 1 copy PubMed: Yamamoto 2013 - - Unknown - - - - - DNA PCRq - - SMA3 - PubMed: Yamamoto 2013 - F - Japan - >19y - - - 1 Hisahide Nishio
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