Full data view for gene ATL1

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_015915.4 transcript reference sequence.

132 entries on 2 pages. Showing entries 1 - 100.
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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     
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - - - DNA MLPA leukocytes - SPG3A - PubMed: Elert-Dobkowska 2015 2 affecteds ? - Poland - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - - - DNA MLPA leukocytes - SPG3A - PubMed: Elert-Dobkowska 2015 2 affecteds ? - Poland - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - - - DNA MLPA leukocytes - SPG3A - PubMed: Elert-Dobkowska 2015 4 affecteds ? - Poland - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - - - DNA MLPA leukocytes - SPG3A - PubMed: Elert-Dobkowska 2015 4 affecteds ? - Poland - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - - - DNA MLPA leukocytes - SPG3A - PubMed: Elert-Dobkowska 2015 4 affecteds ? - Poland - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - - - DNA MLPA leukocytes - SPG3A - PubMed: Elert-Dobkowska 2015 4 affecteds ? - Poland - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Loureiro 2013 - - Germline yes - - - - DNA MLPA leukocytes - SPG3A - PubMed: Loureiro 2013 family 1 out of 89 ? - Portugal - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 22 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 6 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 6 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 6 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 6 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 6 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Abel 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Abel 2004 6 patients in 1 family ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Dufke 2012 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Dufke 2012 Patient 46 ? - Germany - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Álvarez 2010 - - Germline yes - - - - DNA MLPA leukocytes - SPG3A - PubMed: Álvarez 2010 Case 97 ? - Spain - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Álvarez 2010 - - Germline yes - - - - DNA MLPA leukocytes - SPG3A - PubMed: Álvarez 2010 Case 102 ? - Spain - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Álvarez 2010 - - Germline yes - - - - DNA MLPA leukocytes - SPG3A - PubMed: Álvarez 2010 Case 220 ? - Spain - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Álvarez 2010 - - Germline yes - - - - DNA MLPA leukocytes - SPG3A - PubMed: Álvarez 2010 Case 279 ? - Spain - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Sauter 2004 - - Germline/De novo (untested) yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Sauter 2004 patient with father and grandfather M - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Paternal (confirmed) - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Sauter 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Sauter 2004 patient with father and grandfather M - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Paternal (confirmed) - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Sauter 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Sauter 2004 patient with father and grandfather M - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Sauter 2004 - - Germline/De novo (untested) yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Sauter 2004 patient with son M - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Paternal (confirmed) - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Sauter 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Sauter 2004 patient with son M - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Smith 2009 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Smith 2009 Patient Number 2 M - United Kingdom (Great Britain) - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Ivanova 2007 - - Germline/De novo (untested) yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Ivanova 2007 4-generation family, 5 affecteds ? - Belgium - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Ivanova 2007 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Ivanova 2007 4-generation family, 5 affecteds ? - Belgium - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Ivanova 2007 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Ivanova 2007 4-generation family, 5 affecteds ? - Belgium - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Ivanova 2007 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Ivanova 2007 4-generation family, 5 affecteds ? - Belgium - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Ivanova 2007 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Ivanova 2007 4-generation family, 5 affecteds ? - Belgium - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: McCorquodale 2011 - - Germline yes - - - - DNA MLPA leukocytes - SPG3A - PubMed: McCorquodale 2011 new variant in exon 6 ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: McCorquodale 2011 - - Germline yes - - - - DNA MLPA leukocytes - SPG3A - PubMed: McCorquodale 2011 new variant in exon 7 ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 5-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 5-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 5-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 5-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 5-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 5-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 5-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 5-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 5-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 5-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 5-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 5-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 6-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 6-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 6-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 6-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 6-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 6-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 6-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 6-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 6-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 6-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 6-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 6-generation family, 12 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 3-generation family, 3 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 3-generation family, 3 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Zhao 2001 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Zhao 2001 3-generation family, 3 affecteds ? - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Kwon 2010 - - Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Kwon 2010 3-generation family, 6 affecteds F - Korea - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Maternal (confirmed) - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Kwon 2010 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Kwon 2010 3-generation family, 6 affecteds F - Korea - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Maternal (confirmed) - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Kwon 2010 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Kwon 2010 3-generation family, 6 affecteds F - Korea - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Maternal (confirmed) - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Kwon 2010 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Kwon 2010 3-generation family, 6 affecteds M - Korea - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Maternal (confirmed) - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Kwon 2010 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Kwon 2010 3-generation family, 6 affecteds F - Korea - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Maternal (confirmed) - pathogenic g.51080061C>T g.50613343C>T R239C - ATL1_000001 - PubMed: Kwon 2010 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Kwon 2010 3-generation family, 6 affecteds F - Korea - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Dürr 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Dürr 2004 3 patients in family ? - France - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Dürr 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Dürr 2004 3 patients in family ? - France - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Dürr 2004 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Dürr 2004 3 patients in family ? - France - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Unknown - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Zhao 2015 - - Germline/De novo (untested) yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Zhao 2015 5-generation family, 12 affecteds M - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Paternal (confirmed) - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Zhao 2015 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Zhao 2015 5-generation family, 12 affecteds F - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Maternal (confirmed) - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Zhao 2015 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Zhao 2015 5-generation family, 12 affecteds M - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Maternal (confirmed) - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Zhao 2015 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Zhao 2015 5-generation family, 12 affecteds F - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Maternal (confirmed) - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Zhao 2015 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Zhao 2015 5-generation family, 12 affecteds F - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Maternal (confirmed) - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Zhao 2015 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Zhao 2015 5-generation family, 12 affecteds F - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Paternal (confirmed) - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Zhao 2015 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Zhao 2015 5-generation family, 12 affecteds M - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Maternal (confirmed) - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Zhao 2015 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Zhao 2015 5-generation family, 12 affecteds F - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Maternal (confirmed) - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Zhao 2015 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Zhao 2015 5-generation family, 12 affecteds M - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Maternal (confirmed) - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Zhao 2015 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Zhao 2015 5-generation family, 12 affecteds M - - - - - - - 1 Christian Beetz
+/. 7 c.715C>T r.(?) p.(Arg239Cys) Maternal (confirmed) - pathogenic g.51080061C>T g.50613343C>T - - ATL1_000001 - PubMed: Zhao 2015 - - Germline yes - - - - DNA PCR leukocytes - SPG3A - PubMed: Zhao 2015 5-generation family, 12 affecteds M - - - - - - - 1 Christian Beetz
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