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.

222 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

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_*577{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - - - - - DNA SEQ - - SMA Fam2 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 1 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - - - - - DNA SEQ - - SMA Fam3 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 1 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - - - - - DNA SEQ - - SMA Fam4 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 1 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - - - - - DNA SEQ - - SMA Fam5 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 1 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 3/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 3 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 4/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 4 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 143/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 143 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 2/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 2 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 30/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 30 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 22/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 22 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 4/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 4 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 2/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 2 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 8/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 8 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 15/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 15 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 10/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 10 Johan den Dunnen
+/. _1_9 c.-163_*577{0} r.0 p.0 Both (homozygous) ACMG pathogenic g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del NM_000344.3: SMN1 0 copies - SMN1_000087 ACMG PVS1, PP4_mod PubMed: Cerino 2022 - - Germline - - - - - DNA MLPA, SEQ, SEQ-NG - gene panel MYOP P70/Myo135 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
+/. _1_9 c.-163_*577{0} r.0 p.0 Both (homozygous) ACMG pathogenic g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del NM_000344.3:SMN1 0 copies NM_017411.3:SMN2 3 copies - SMN1_000087 ACMG PVS1, PP4_mod PubMed: Cerino 2022 - - Germline - - - - - DNA MLPA, SEQ, SEQ-NG - gene panel MYOP P71/Myo138 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
+/+ _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
+/. 1 c.-14C>T r.(?) p.(=) Parent #1 - pathogenic g.70220917C>T g.70925090C>T - - SMN1_000038 - PubMed: Parsons 1998, OMIM:var0006 - - Germline - - - - - DNA SEQ - - SMA2 - PubMed: Parsons 1998 - - - United States - - - - - 1 Johan den Dunnen
+/. 1 c.-14C>T r.(?) p.(=) Parent #1 - pathogenic g.70220917C>T g.70925090C>T - - SMN1_000038 - PubMed: Parsons 1998, OMIM:var0006 - - Germline - - - - - DNA SEQ - - SMA3 - PubMed: Parsons 1998 2 unrelated patients - - United States - - - - - 2 Johan den Dunnen
+/. 1 c.-7_9del r.-7_9del p.0 Maternal (confirmed) - pathogenic g.70220924_70220939del g.70925097_70925112del - - SMN1_000059 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SMA3 - - - F no (China) chinese - - - - 1 Fang Song
+/. 7i_9_ c.(834+1_835-1)_*577{0} r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(70242004_70247767)_(70248839_?)del g.(70946177_70951940)_(70953012_?)del del ex7-8 - SMN1_000092 - PubMed: Bai 2022 - - Germline - - - - - DNA MLPA, SEQ, SEQ-ON, SEQ-PB - - SMA Fam1PatIV2 PubMed: Bai 2022 4-generation family, 1 affected, unaffected heterozygous parents, 2 unaffected males carrying DMD variant F;M no China - - - - - 1 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 7/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 7 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 19/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 19 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 5/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 5 Johan den Dunnen
+/. - c.? r.? p.? Both (homozygous) - pathogenic (recessive) g.? - del ex7 - RAD50_000000 - PubMed: Reiner 2022 - - Germline - 2/73,755 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Both (homozygous) - pathogenic (recessive) g.? - del ex7 - RAD50_000000 - PubMed: Reiner 2022 - - Germline - 2/73,755 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
+/. 1 c.5C>G r.(?) p.(Ala2Gly) Parent #1 - pathogenic g.70220935C>G g.70925108C>G 38C>G - SMN1_000001 - PubMed: Parsons 1998, OMIM:var0006 - - Germline - - - - - DNA SEQ - - SMA2 - PubMed: Parsons 1998 - - - United States - - - - - 1 Johan den Dunnen
+/. 1 c.5C>G r.(?) p.(Ala2Gly) Parent #1 - pathogenic g.70220935C>G g.70925108C>G 38C>G - SMN1_000001 founder mutation likely PubMed: Parsons 1998, OMIM:var0006 - - Germline - - - - - DNA SEQ - - SMA3 - PubMed: Parsons 1998 2 unrelated patients - - United States - - - - - 2 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »