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.

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     
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Parent #1 - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ - - SPG - PubMed: Varga 2013 5-generation family, 21 affecteds, numerous affected male carriers and several unaffected female carriers (and potentially a few male carriers) F ? United States - - - - - 21 Johan den Dunnen
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - - - DNA MLPA leukocytes - SPG3A - PubMed: Elert-Dobkowska 2015 3 affecteds ? - Poland - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - - - DNA MLPA leukocytes - SPG3A - PubMed: Elert-Dobkowska 2015 3 affecteds ? - Poland - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - - - DNA MLPA leukocytes - SPG3A - PubMed: Elert-Dobkowska 2015 3 affecteds ? - Poland - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - - - DNA MLPA leukocytes - SPG3A - PubMed: Elert-Dobkowska 2015 4 affecteds ? - Poland - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - - - DNA MLPA leukocytes - SPG3A - PubMed: Elert-Dobkowska 2015 4 affecteds ? - Poland - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - - - DNA MLPA leukocytes - SPG3A - PubMed: Elert-Dobkowska 2015 4 affecteds ? - Poland - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - - - DNA MLPA leukocytes - SPG3A - PubMed: Elert-Dobkowska 2015 4 affecteds ? - Poland - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Ishiura 2014 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Ishiura 2014 variant 1 in exon 12 ? - Japan - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Álvarez 2010 - - Germline yes - - - - DNA MLPA leukocytes - SPG3A - PubMed: Álvarez 2010 Case 233 ? - Spain - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Parent #1 - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 5-generation family, 21 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Parent #1 - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 5-generation family, 21 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Parent #1 - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 5-generation family, 21 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 5-generation family, 21 affecteds F - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Both (homozygous) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 5-generation family, 21 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Paternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 5-generation family, 21 affecteds F - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 5-generation family, 21 affecteds F - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 5-generation family, 21 affecteds F - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 5-generation family, 21 affecteds F - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 5-generation family, 21 affecteds F - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Parent #1 - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 5-generation family, 21 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 5-generation family, 21 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 5-generation family, 21 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 5-generation family, 21 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 5-generation family, 21 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 5-generation family, 21 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 5-generation family, 21 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Paternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 5-generation family, 21 affecteds F - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Paternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 5-generation family, 21 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Paternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 5-generation family, 21 affecteds F - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 2-generation family, 1 affected, 2 asymptomatic M - Spain - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Paternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 2-generation family, 1 affected, 2 asymptomatic M - Spain - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Paternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 2-generation family, 1 affected, 2 asymptomatic M - Spain - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 4-generation family, 14 affecteds F - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 4-generation family, 14 affecteds F - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 4-generation family, 14 affecteds F - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 4-generation family, 14 affecteds F - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 4-generation family, 14 affecteds F - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 4-generation family, 14 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 4-generation family, 14 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 4-generation family, 14 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 4-generation family, 14 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 4-generation family, 14 affecteds F - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 4-generation family, 14 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Paternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 4-generation family, 14 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 4-generation family, 14 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Paternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 4-generation family, 14 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 3-generation family, 5 affecteds F - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 3-generation family, 5 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 3-generation family, 5 affecteds F - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 3-generation family, 5 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Varga 2013 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Varga 2013 3-generation family, 5 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T g.50628154C>T R415W - ATL1_000010 - PubMed: D'Amico 2004 - - Germline/De novo (untested) yes - - - - DNA RFLP leukocytes - SPG3A - PubMed: D'Amico 2004 5-generation family, 15 affecteds M - Italy - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T g.50628154C>T R415W - ATL1_000010 - PubMed: D'Amico 2004 - - Germline/De novo (untested) yes - - - - DNA RFLP leukocytes - SPG3A - PubMed: D'Amico 2004 5-generation family, 15 affecteds F - Italy - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T g.50628154C>T R415W - ATL1_000010 - PubMed: D'Amico 2004 - - Germline/De novo (untested) yes - - - - DNA RFLP leukocytes - SPG3A - PubMed: D'Amico 2004 5-generation family, 15 affecteds M - Italy - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T g.50628154C>T R415W - ATL1_000010 - PubMed: D'Amico 2004 - - Germline/De novo (untested) yes - - - - DNA RFLP leukocytes - SPG3A - PubMed: D'Amico 2004 5-generation family, 15 affecteds M - Italy - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Paternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T R415W - ATL1_000010 - PubMed: D'Amico 2004 - - Germline yes - - - - DNA RFLP leukocytes - SPG3A - PubMed: D'Amico 2004 5-generation family, 15 affecteds M - Italy - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Paternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T R415W - ATL1_000010 - PubMed: D'Amico 2004 - - Germline yes - - - - DNA RFLP leukocytes - SPG3A - PubMed: D'Amico 2004 5-generation family, 15 affecteds F - Italy - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T R415W - ATL1_000010 - PubMed: D'Amico 2004 - - Germline yes - - - - DNA RFLP leukocytes - SPG3A - PubMed: D'Amico 2004 5-generation family, 15 affecteds M - Italy - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T R415W - ATL1_000010 - PubMed: D'Amico 2004 - - Germline yes - - - - DNA RFLP leukocytes - SPG3A - PubMed: D'Amico 2004 5-generation family, 15 affecteds F - Italy - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Paternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T R415W - ATL1_000010 - PubMed: D'Amico 2004 - - Germline yes - - - - DNA RFLP leukocytes - SPG3A - PubMed: D'Amico 2004 5-generation family, 15 affecteds M - Italy - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Paternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T R415W - ATL1_000010 - PubMed: D'Amico 2004 - - Germline yes - - - - DNA RFLP leukocytes - SPG3A - PubMed: D'Amico 2004 5-generation family, 15 affecteds F - Italy - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Paternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T R415W - ATL1_000010 - PubMed: D'Amico 2004 - - Germline yes - - - - DNA RFLP leukocytes - SPG3A - PubMed: D'Amico 2004 5-generation family, 15 affecteds M - Italy - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Paternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T R415W - ATL1_000010 - PubMed: D'Amico 2004 - - Germline yes - - - - DNA RFLP leukocytes - SPG3A - PubMed: D'Amico 2004 5-generation family, 15 affecteds M - Italy - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T R415W - ATL1_000010 - PubMed: D'Amico 2004 - - Germline yes - - - - DNA RFLP leukocytes - SPG3A - PubMed: D'Amico 2004 5-generation family, 15 affecteds M - Italy - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T R415W - ATL1_000010 - PubMed: D'Amico 2004 - - Germline yes - - - - DNA RFLP leukocytes - SPG3A - PubMed: D'Amico 2004 5-generation family, 15 affecteds F - Italy - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T R415W - ATL1_000010 - PubMed: D'Amico 2004 - - Germline yes - - - - DNA RFLP leukocytes - SPG3A - PubMed: D'Amico 2004 5-generation family, 15 affecteds M - Italy - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Maternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T R415W - ATL1_000010 - PubMed: D'Amico 2004 - - Germline yes - - - - DNA RFLP leukocytes - SPG3A - PubMed: D'Amico 2004 5-generation family, 15 affecteds F - Italy - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Di Fabio 2014 - - Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Di Fabio 2014 4-generation family, 2 affecteds M - - - - - - - 1 Christian Beetz
+/. 12 c.1243C>T r.(?) p.(Arg415Trp) Paternal (confirmed) - pathogenic g.51094872C>T g.50628154C>T - - ATL1_000010 - PubMed: Di Fabio 2014 - - Germline yes - - - - DNA SEQ leukocytes - SPG3A - PubMed: Di Fabio 2014 4-generation family, 2 affecteds M - - - - - - - 1 Christian Beetz
+/. - c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T g.50628154C>T ATL1(NM_015915.5):c.1243C>T (p.(Arg415Trp)) - ATL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1243C>T r.(?) p.(Arg415Trp) Unknown - pathogenic g.51094872C>T - ATL1(NM_015915.5):c.1243C>T (p.(Arg415Trp)) - ATL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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