Full data view for gene ARSA

Information The variants shown are described using the NM_000487.5 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

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Re-site     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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+/. 8 c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic g.51063820G>A g.50625392G>A - - ARSA_000083 - PubMed: Barth 1993, ExPASy_007291 - rs28940893 Germline - - - - - DNA SEQ - - MLD - PubMed: Barth 1993 - - - United Kingdom (Great Britain) white - - - - 1 Alessandra Biffi
+/. 8 c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic g.51063820G>A g.50625392G>A - - ARSA_000083 - PubMed: Berna 2004, Journal: Berna 2004, ExPASy_007291 - rs28940893 Germline - - - - - DNA SEQ - - MLD Pat9 PubMed: Berna 2004, Journal: Berna 2004 - F no Czech Republic - - - - - 1 SIB - Livia Famiglietti
+/. 8 c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic (recessive) g.51063820G>A g.50625392G>A - - ARSA_000083 - PubMed: Lugowska 2010, ExPASy_007291 - rs28940893 Germline - - - - - DNA SEQ - - MLD - PubMed: Lugowska 2010 - - - Poland - - - - - 1 SIB - Livia Famiglietti
+/. 8 c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic (recessive) g.51063820G>A g.50625392G>A - - ARSA_000083 - PubMed: Qu 1999, ExPASy_007291 - rs28940893 Germline - - - - - DNA SEQ - - MLD - PubMed: Qu 1999 - - - United States - - - - - 1 SIB - Livia Famiglietti
+/. - c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic (recessive) g.51063820G>A g.50625392G>A - - ARSA_000083 - PubMed: Olkhovich 2003, ExPASy_054210 - - Germline - - - - - DNA SEQ - - MLD - PubMed: Olkhovich 2003 - F - Ukraine - - - - - 1 SIB - Livia Famiglietti
+/. 8 c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic g.51063820G>A g.50625392G>A c.1277C>T - ARSA_000083 - PubMed: Gieselmann 1994 - rs28940893 Unknown - - - - - DNA SEQ - - MLD - PubMed: Gieselmann 1994 - - - - - - - - - 1 Johan den Dunnen
+/+ 8 c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic g.51063820G>A g.50625392G>A 1277C>T (Pro426Leu) - ARSA_000083 - PubMed: Polten 1991, Journal: Polten 1991 - - Germline ? - - - - DNA ASO, SEQ - - MLD PatIA PubMed: Polten 1991, Journal: Polten 1991 - ? ? Germany - - - - - 1 Alessandra Biffi
+/+ 8 c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic g.51063820G>A g.50625392G>A 1277C>T (Pro426Leu) - ARSA_000083 - PubMed: Polten 1991, Journal: Polten 1991 - - Germline ? - - - - DNA ASO, SEQ - - MLD PatAA PubMed: Polten 1991, Journal: Polten 1991 - ? ? Germany - - - - - 1 Alessandra Biffi
+/+ 8 c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic g.51063820G>A g.50625392G>A 1277C>T (Pro426Leu) - ARSA_000083 - PubMed: Kapler 1992, Journal: Kapler 1992 - - Germline ? - - - - DNA SEQ - - MLD BB PubMed: Kapler 1992, Journal: Kapler 1992 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F ? Germany white - - - - 2 Alessandra Biffi
+/+ 8 c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic g.51063820G>A g.50625392G>A 1277C>T (Pro426Leu) - ARSA_000083 - PubMed: Barth 1993 - - Germline - - - - - DNA ASO - - MLD Pat10 PubMed: Barth 1993 - ? ? United Kingdom (Great Britain) white - - - - 1 Alessandra Biffi
+/+ 8 c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic g.51063820G>A g.50625392G>A 1277C>T (Pro426Leu) - ARSA_000083 - PubMed: Barth 1993 - - Germline - - - - - DNA ASO - - MLD Pat17 PubMed: Barth 1993 - ? ? Finland white - - - - 1 Alessandra Biffi
+/+ 8 c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic g.51063820G>A g.50625392G>A 1277C>T (Pro426Leu) - ARSA_000083 - PubMed: Takahashi 1993 - - Germline ? - - - - DNA SEQ - - MLD FamPat1 PubMed: Takahashi 1993 2-generation family, affected brother and sister F ? Japan - - - - - 2 Alessandra Biffi
+/+ 8 c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic g.51063820G>A g.50625392G>A 1277C>T (Pro426Leu) - ARSA_000083 - PubMed: Takahashi 1993 - - Germline yes - - - - DNA SEQ - - MLD FamPat2 PubMed: Takahashi 1993 brother of 59257 M ? Japan - - - - - 1 Alessandra Biffi
+/. - c.1283C>T r.(?) p.(Pro428Leu) - Unknown - pathogenic g.51063820G>A g.50625392G>A ARSA(NM_000487.5):c.1283C>T (p.P428L, p.(Pro428Leu)), ARSA(NM_000487.6):c.1283C>T (p.P428L) - ARSA_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1283C>T r.(?) p.(Pro428Leu) - Unknown - pathogenic g.51063820G>A g.50625392G>A ARSA(NM_000487.5):c.1283C>T (p.P428L, p.(Pro428Leu)), ARSA(NM_000487.6):c.1283C>T (p.P428L) - ARSA_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1283C>T r.(?) p.(Pro428Leu) - Unknown - pathogenic g.51063820G>A g.50625392G>A ARSA(NM_000487.5):c.1283C>T (p.P428L, p.(Pro428Leu)), ARSA(NM_000487.6):c.1283C>T (p.P428L) - ARSA_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1283C>T r.(?) p.(Pro428Leu) - Unknown - pathogenic g.51063820G>A g.50625392G>A ARSA(NM_000487.5):c.1283C>T (p.P428L, p.(Pro428Leu)), ARSA(NM_000487.6):c.1283C>T (p.P428L) - ARSA_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic g.51063820G>A g.50625392G>A 1277C>T (Pro426Leu) - ARSA_000083 - PubMed: Kapler 1992, Journal: Kapler 1992 - - Germline - - - - - DNA SEQ - - MLD - PubMed: Kapler 1992, Journal: Kapler 1992 sib patient BB F - Germany - - - - - 1 Alessandra Biffi
+/. - c.1283C>T r.(?) p.(Pro428Leu) - Parent #2 - pathogenic (recessive) g.51063820G>A g.50625392G>A - - ARSA_000083 - PubMed: Barth 1995 - - Germline - - - - - DNA SEQ - - MLD Pat6 PubMed: Barth 1995 - M - South Africa - - - - - 1 Alessandra Biffi
+/. - c.1283C>T r.(?) p.(Pro428Leu) - Parent #2 - pathogenic (recessive) g.51063820G>A g.50625392G>A P426L - ARSA_000083 - PubMed: Barth 1995 - - Germline - - - - - DNA SEQ - - MLD Pat7 PubMed: Barth 1995 - M - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.1283C>T r.(?) p.(Pro428Leu) - Parent #2 - pathogenic (recessive) g.51063820G>A g.50625392G>A - - ARSA_000083 - PubMed: Coulter-Mackie 1998 - - Germline - - - - - DNA SEQ - - MLD - PubMed: Coulter-Mackie 1998 - F - Canada - - - - - 1 Alessandra Biffi
+/. - c.1283C>T r.(?) p.(Pro428Leu) - Parent #2 - pathogenic (recessive) g.51063820G>A g.50625392G>A - - ARSA_000083 - PubMed: Marcao 1999 - - Germline - - - - - DNA SEQ - - MLD - PubMed: Marcao 1999 - - - Portugal - 13y - - - 1 Johan den Dunnen
+/. - c.1283C>T r.(?) p.(Pro428Leu) - Parent #2 - pathogenic (recessive) g.51063820G>A g.50625392G>A - - ARSA_000083 - PubMed: Regis 2002 - - Germline - - - - - DNA SEQ - - MLD - PubMed: Regis 2002 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.1283C>T r.(?) p.(Pro428Leu) - Parent #2 - pathogenic (recessive) g.51063820G>A g.50625392G>A - - ARSA_000083 - PubMed: Eng 2003 - - Germline - - - - - DNA SEQ - - MLD - PubMed: Eng 2003 - - - Canada - - - - - 1 SIB - Livia Famiglietti
+/. - c.1283C>T r.(?) p.(Pro428Leu) - Parent #2 - pathogenic (recessive) g.51063820G>A g.50625392G>A - - ARSA_000083 - PubMed: Olkhovich 2003 - - Germline - - - - - DNA SEQ - - MLD - PubMed: Olkhovich 2003 - F - Ukraine - - - - - 1 SIB - Livia Famiglietti
+/. - c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Bisgaard 2009 - - Germline - - - - - DNA arrayCGH, SEQ - - ? Pat1 PubMed: Bisgaard 2009 - M - Denmark - - - - - 1 Johan den Dunnen
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Berger 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Berger 1997 - F - Austria white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Berger 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Berger 1997 - F - Austria white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Berger 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Berger 1997 - M - Austria white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #2 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Berger 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Berger 1997 - M - Austria white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Berger 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Berger 1997 - M - Austria white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Berger 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Berger 1997 - M - Austria white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #2 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Berger 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Berger 1997 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany white - - - - 2 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #2 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Berger 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Berger 1997 sib of 83 M - Germany white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Draghia 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat8 PubMed: Draghia 1997 - - - France - - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Draghia 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat18 PubMed: Draghia 1997 - - - France - - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #2 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Draghia 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat13 PubMed: Draghia 1997 - - - France - - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #2 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Draghia 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat14 PubMed: Draghia 1997 - - - France - - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #2 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Draghia 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat16 PubMed: Draghia 1997 - - - France - - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #2 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Coulter-Mackie 1998 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Coulter-Mackie 1998 - M - Canada - - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #2 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Perusi 1999 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Perusi 1999 - M - - white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Baumann 2002 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Baumann 2002 - M - France - - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Baumann 2002 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Baumann 2002 - M - France - - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Baumann 2002 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Baumann 2002 - M - France - - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Coulter-Mackie 2003 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Coulter-Mackie 2003 - - - - - - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #2 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Rafi 2003 - - Germline - - - - - DNA SEQ leukocytes - MLD Fam6 PubMed: Rafi 2003 - - - - - - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Lugowska 2005 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat6 PubMed: Lugowska 2005 - - - Poland white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Lugowska 2005 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat7 PubMed: Lugowska 2005 - - - Poland white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Lugowska 2005 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat11 PubMed: Lugowska 2005 - - - Poland white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Lugowska 2005 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat12 PubMed: Lugowska 2005 - - - Poland white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Lugowska 2005 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat13 PubMed: Lugowska 2005 - - - Poland white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Lugowska 2005 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat14 PubMed: Lugowska 2005 - - - Poland white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Lugowska 2005 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat15 PubMed: Lugowska 2005 - - - Poland white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #2 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Anlar 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Anlar 2006 - F no Turkey - - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat5 PubMed: Rauschka 2006 - M - France white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat7 PubMed: Rauschka 2006 two affected sisters F - Germany white - - - - 2 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat6 PubMed: Rauschka 2006 sister Pat7 F - Germany white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat8 PubMed: Rauschka 2006 two affected sisters F - Germany white - - - - 2 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat9 PubMed: Rauschka 2006 sister Pat8 F - Germany white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat10 PubMed: Rauschka 2006 - M - Germany white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat11 PubMed: Rauschka 2006 - F - Germany white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat15 PubMed: Rauschka 2006 - F - Netherlands white 32y - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat16 PubMed: Rauschka 2006 - M - Netherlands white 34y - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat17 PubMed: Rauschka 2006 - F - Netherlands white 22y - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat18 PubMed: Rauschka 2006 - M - Netherlands white 30y - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat19 PubMed: Rauschka 2006 - F - Netherlands white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat20 PubMed: Rauschka 2006 affected sister/brother F - Netherlands white - - - - 2 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat21 PubMed: Rauschka 2006 brother Pat20 M - Netherlands white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Both (homozygous) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat22 PubMed: Rauschka 2006 - F - Netherlands white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Maternal (confirmed) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - {PMID:Waye 2007 HGOL - - Germline - - - - - DNA SEQ leukocytes - MLD - {PMID:Waye 2007 HGOL 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Maternal (confirmed) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Lugowska 2009 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat5a PubMed: Lugowska 2009 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents - - Poland white - - - - 2 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Maternal (confirmed) - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Lugowska 2009 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat5b PubMed: Lugowska 2009 sib of 316 - - Poland white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #2 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Luzi 2013 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat3 PubMed: Luzi 2013 - - - - - - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Luzi 2013 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat10 PubMed: Luzi 2013 - - - - - - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #2 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Cesani 2016 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat30 PubMed: Cesani 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Poland white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Cesani 2016 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat32 PubMed: Cesani 2016 - M no Czech Republic white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Cesani 2016 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat33 PubMed: Cesani 2016 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents F no Sweden white - - - - 2 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Cesani 2016 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat34 PubMed: Cesani 2016 sib of 413 M no Sweden white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #2 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Cesani 2016 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat35 PubMed: Cesani 2016 - F no United Kingdom (Great Britain) white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Cesani 2016 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat36 PubMed: Cesani 2016 - F no United Kingdom (Great Britain) white - - - - 1 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Cesani 2016 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat37 PubMed: Cesani 2016 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M no United States white - - - - 2 Alessandra Biffi
+/+? - c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic (recessive) g.51063820G>A g.50625392G>A 1277C>T - ARSA_000083 - PubMed: Cesani 2016 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat38 PubMed: Cesani 2016 sib of 417 F no United States white - - - - 1 Alessandra Biffi
+/. - c.1283C>T r.(?) p.(Pro428Leu) - Parent #1 - pathogenic g.51063820G>A g.50625392G>A - - ARSA_000083 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28940893 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.1283C>T r.(?) p.(Pro428Leu) - Unknown - pathogenic g.51063820G>A - ARSA(NM_000487.5):c.1283C>T (p.P428L, p.(Pro428Leu)), ARSA(NM_000487.6):c.1283C>T (p.P428L) - ARSA_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1283C>T r.(?) p.(Pro428Leu) - Unknown - pathogenic g.51063820G>A - ARSA(NM_000487.5):c.1283C>T (p.P428L, p.(Pro428Leu)), ARSA(NM_000487.6):c.1283C>T (p.P428L) - ARSA_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1283C>T r.(?) p.(Pro428Leu) - Unknown - pathogenic g.51063820G>A - ARSA(NM_000487.5):c.1283C>T (p.P428L, p.(Pro428Leu)), ARSA(NM_000487.6):c.1283C>T (p.P428L) - ARSA_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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