Full data view for gene ARSA

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

49 entries on 1 page. Showing entries 1 - 49.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Protein level     

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     
+/. 3 c.542T>G r.(?) p.(Ile181Ser) - Parent #1 - pathogenic g.51065404A>C g.50626976A>C c.536T>G - ARSA_000115 - PubMed: Fluharty 1991 - - Unknown - - - - - DNA SEQ - - MLD - PubMed: Fluharty 1991 - M - Germany white - - - - 1 Alessandra Biffi
+/. 3 c.542T>G r.(?) p.(Ile181Ser) - Parent #2 - pathogenic g.51065404A>C g.50626976A>C T>C (I179S) - ARSA_000115 - PubMed: Berna 2004, Journal: Berna 2004 - - Germline - - - - - DNA SEQ - - MLD Pat6 PubMed: Berna 2004, Journal: Berna 2004 - F no Czech Republic - - - - - 1 SIB - Livia Famiglietti
+/. 3 c.542T>G r.(?) p.(Ile181Ser) - Parent #2 - pathogenic g.51065404A>C g.50626976A>C 536T>G (I179S) - ARSA_000115 - PubMed: Berna 2004, Journal: Berna 2004 - - Germline - - - - - DNA SEQ - - MLD Pat5 PubMed: Berna 2004, Journal: Berna 2004 - M no Czech Republic - - - - - 1 SIB - Livia Famiglietti
+/. - c.542T>G r.(?) p.(Ile181Ser) - Unknown - pathogenic g.51065404A>C g.50626976A>C ARSA(NM_000487.5):c.542T>G (p.(Ile181Ser)), ARSA(NM_000487.6):c.542T>G (p.I181S) - ARSA_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.542T>G r.(?) p.(Ile181Ser) - Unknown - pathogenic g.51065404A>C g.50626976A>C ARSA(NM_000487.5):c.542T>G (p.(Ile181Ser)), ARSA(NM_000487.6):c.542T>G (p.I181S) - ARSA_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.542T>G r.(?) p.(Ile181Ser) - Parent #2 - pathogenic (recessive) g.51065404A>C g.50626976A>C T799G - ARSA_000115 - PubMed: Gomez-Lira 1998 - - Germline - - - - - DNA SEQ - - MLD Pat2 PubMed: Gomez-Lira 1998 - F no Italy - - - - - 1 Johan den Dunnen
+/. - c.542T>G r.(?) p.(Ile181Ser) - Parent #2 - pathogenic (recessive) g.51065404A>C g.50626976A>C - - ARSA_000115 - PubMed: Halsall 1999 - - Germline - - - - - DNA SEQ - - MLD - PubMed: Halsall 1999 - F - United Kingdom (Great Britain) white - - - - 1 Alessandra Biffi
+/. - c.542T>G r.(?) p.(Ile181Ser) - Parent #2 - pathogenic (recessive) g.51065404A>C g.50626976A>C - - ARSA_000115 - PubMed: Lugowska 2009 - - Germline - - - - - DNA SEQ - - MLD Pat6 PubMed: Lugowska 2009 - - - Poland - - - - - 1 Johan den Dunnen
+/. - c.542T>G r.(?) p.(Ile181Ser) - Parent #2 - pathogenic (recessive) g.51065404A>C g.50626976A>C - - ARSA_000115 - PubMed: Onder 2009 - - Germline - - - - - DNA SEQ - - MLD - PubMed: Schneider 2009 - F no Ukraine - - - - - 1 Johan den Dunnen
+/. - c.542T>G r.(?) p.(Ile181Ser) - Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C - - ARSA_000115 - - - - Germline - - - - - DNA SEQ - - MLD - PubMed: Lugowska 2010 - - - Poland - - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 unknown variant 2nd allele PubMed: Tylki-Szymanska 1996 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Tylki-Szymanska 1996 3 patients described with this genotype - - Poland white - - - - 3 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Berger 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Berger 1997 - M - Austria white - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Berger 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Berger 1997 - M - Austria white - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - 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.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Berger 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Berger 1997 sib of 83 M - Germany white - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #2 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Coulter-Mackie 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Coulter-Mackie 1997 - M - Canada white - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #2 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Coulter-Mackie 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Coulter-Mackie 1997 - M - Canada white - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C T799G - ARSA_000115 - PubMed: Gomez-Lira 1998 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat1 PubMed: Gomez-Lira 1998 - M no Italy white - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Perusi 1999 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Perusi 1999 - M - - white - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Baumann 2002 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Baumann 2002 - F - France - - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Baumann 2002 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Baumann 2002 - F - France - - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Maternal (confirmed) - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Coulter-Mackie 2003 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Coulter-Mackie 2003 - F - Canada white - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Coulter-Mackie 2003 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Coulter-Mackie 2003 - F - Italy white - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #2 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Rafi 2003 - - Germline - - - - - DNA SEQ leukocytes - MLD Fam7 PubMed: Rafi 2003 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents - - - - - - - - 2 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #2 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Rafi 2003 - - Germline - - - - - DNA SEQ leukocytes - MLD Fam7 PubMed: Rafi 2003 sib of 186 - - - - - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Berna 2004, Journal: Berna 2004 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat7 PubMed: Berna 2004, Journal: Berna 2004 - M - Czech Republic - - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Berna 2004, Journal: Berna 2004 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat8 PubMed: Berna 2004, Journal: Berna 2004 - F - Czech Republic - - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Lugowska 2005 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat8 PubMed: Lugowska 2005 - - - Poland white - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #2 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Lugowska 2005 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat9 PubMed: Lugowska 2005 - - - Poland white - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Lugowska 2005 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat10 PubMed: Lugowska 2005 - - - Poland white - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat35 PubMed: Rauschka 2006 affected sister/brother F - France white - - - - 2 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat36 PubMed: Rauschka 2006 brother Pat35 M - France white - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat37 PubMed: Rauschka 2006 - F - France white - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat38 PubMed: Rauschka 2006 - F - France white - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat39 PubMed: Rauschka 2006 affected sister/brother F - United States - - - - - 2 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat40 PubMed: Rauschka 2006 brother Pat39 M - United States - - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat41 PubMed: Rauschka 2006 - M - United States - - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat42 PubMed: Rauschka 2006 - M - United States - - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Grossi 2008 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat9 PubMed: Grossi 2008 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M - Italy white - - - - 2 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #2 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Lugowska 2010 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Lugowska 2010 - - - Poland white - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Lugowska 2010 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Lugowska 2010 - - - Poland white - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Luzi 2013 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat14 PubMed: Luzi 2013 - - - - white - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Luzi 2013 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat18 PubMed: Luzi 2013 - - - - - - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Cesani 2016 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat1 PubMed: Cesani 2016 - M - Italy white - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Cesani 2016 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat43 PubMed: Cesani 2016 - M no Italy white - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Cesani 2016 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat44 PubMed: Cesani 2016 - F no Ukraine white - - - - 1 Alessandra Biffi
+/+? - c.542T>G r.(?) p.(Ile181Ser) 0.05 Parent #1 - pathogenic (recessive) g.51065404A>C g.50626976A>C 536T>G - ARSA_000115 - PubMed: Cesani 2016 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat49 PubMed: Cesani 2016 sib of 429 M - Italy white - - - - 1 Alessandra Biffi
+/. - c.542T>G r.(?) p.(Ile181Ser) - Unknown ACMG pathogenic g.51065404A>C g.50626976A>C - - ARSA_000115 ACMG: PS3,PS4,PM2,PM3,PP1,PP3; beginning depression, listlessness in Gravida II (2019); suspected organic brain damage; MRI supratentorial leukoencephalopathy, cause unclear, clinically positive PNP, rapid progress, arylsulfatase A OK, VLCFA normal; Gomez-Lira et al. 1998. Hum Genet 4: 459; Berger et al. 1997. Am J Hum Genet 3: 335; Stoeck et al. 2016. JAD 3: 683 - - rs74315457 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/. - c.542T>G r.(?) p.(Ile181Ser) - Unknown - pathogenic g.51065404A>C - ARSA(NM_000487.5):c.542T>G (p.(Ile181Ser)), ARSA(NM_000487.6):c.542T>G (p.I181S) - ARSA_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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