Full data view for gene ARSA

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

151 entries on 2 pages. Showing entries 1 - 100.
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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     
+/+ 2i c.465+1G>A r.spl? p.? - Maternal (confirmed) - pathogenic g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Berger et al. (1999) - - Germline yes - - - - DNA PCR, PCRdig, SEQ - - MLD MLD_001 PubMed: Berger 1999 2-generation family, patient MLD_001 M ? Austria white 05y - - - 5 Martina Cesani
+/+ 2i c.465+1G>A r.spl p.? - Parent #1 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - Journal: Biffi 2008 - - Germline - - - - - DNA PCR, SEQ leukocytes - MLD Pt 18 Journal: Biffi 2008 - M no Italy white - - - - 1 Martina Cesani
+/+ 2i c.465+1G>A r.spl p.? - Unknown - pathogenic g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - - - - Germline - - - - - DNA PCR, SEQ leukocytes - MLD Pt 19a Journal: Biffi 2008 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents F no Italy white 09y04m - - - 2 Martina Cesani
+/. 2i c.465+1G>A r.spl p.? - Parent #1 - pathogenic g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Berger et al. (1999) - - Unknown - - - - - DNA PCR, PCRdig, SEQ - - ? - PubMed: Berger (1999) 2-generation family, mother patient MLD_001 F ? Austria - - - - - 1 Johan den Dunnen
+/. 2i c.465+1G>A r.spl p.? - Maternal (confirmed) - pathogenic g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Berger et al. (1999) - - Germline - - - - - DNA PCR, PCRdig, SEQ - - ? - PubMed: Berger (1999) 2-generation family, older sister patient MLD_001 F ? Austria - >15y - - - 1 Johan den Dunnen
+/. 2i c.465+1G>A r.spl p.? - Parent #1 - pathogenic g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Berger et al. (1999) - - Germline - - - - - DNA PCR, PCRdig, SEQ - - MLD - PubMed: Berger (1999) 2-generation family, dizygotic twin brother patient MLD_001 M ? Austria - >12y06m - - - 1 Johan den Dunnen
+/+ 2i c.465+1G>A r.spl p.? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - Journal: Biffi 2008 - - Germline ? - - - - DNA PCR, SEQ leukocytes - MLD Pt 7 Journal: Biffi 2008, Journal: Cesani 2009 - M no France white - - - - 1 Martina Cesani
+/+ 2i c.465+1G>A r.spl p.? - Parent #1 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - Journal: Biffi 2008 - - Germline - - - - - DNA PCR, SEQ leukocytes - MLD Pt 13 Journal: Biffi 2008 - M no Italy white - - - - 1 Martina Cesani
+/+ 2i c.465+1G>A r.spl p.? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - Journal: Biffi 2008 - - Germline - - - - - DNA PCR, SEQ leukocytes - MLD Pt 21 Journal: Biffi 2008 - F no Italy white 17y - - - 1 Martina Cesani
+/+ 2i c.465+1G>A r.spl p.? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - Journal: Biffi 2008, Journal: Cesani 2009 - - Germline - - - - - DNA PCR, SEQ leukocytes - MLD Pt 10 Journal: Biffi 2008, Journal: Cesani 2009 - M no Italy white - - - - 1 Martina Cesani
+/+ 2i c.465+1G>A r.spl p.? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - Journal: Biffi 2008 - - Germline - - - - - DNA PCR, SEQ leukocytes - MLD Pt 16 Journal: Biffi 2008 - F no Italy white - - - - 1 Martina Cesani
+/+ 2i c.465+1G>A r.spl p.? - Both (homozygous) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - Journal: Biffi 2008 - - Germline - - - - - DNA PCRdig leukocytes - MLD Pt 5 Journal: Biffi 2008 - F no Italy white 12y4m - - - 1 Martina Cesani
+/+ 2i c.465+1G>A r.spl p.? - Both (homozygous) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - Journal: Biffi 2008 - - Germline - - - - - DNA PCRdig leukocytes - MLD Pt 6 Journal: Biffi 2008 - F no France white 04y07m - - - 1 Martina Cesani
+/+ 2i c.465+1G>A r.spl p.? - Both (homozygous) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - Journal: Biffi 2008 - - Germline - - - - - DNA PCRdig leukocytes - MLD Pt 9 Journal: Biffi 2008 - F no Italy white 04y10m - - - 1 Martina Cesani
+/+ 2i c.465+1G>A r.spl p.? - Both (homozygous) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - Journal: Biffi 2008 - - Germline - - - - - DNA PCRdig leukocytes - MLD Pt 12 Journal: Biffi 2008 - F no Italy white - - - - 1 Martina Cesani
+/+ 2i c.465+1G>A r.spl p.? - Both (homozygous) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - Journal: Biffi 2008 - - Germline - - - - - DNA PCRdig leukocytes - MLD Pt 15 Journal: Biffi 2008 - F no France white 06y03m - - - 1 Martina Cesani
+/. 7 c.465+1G>A r.spl p.? - Paternal (confirmed) - pathogenic (recessive) g.51065593C>T g.50627165C>T - - ARSA_000002 - PubMed: Coulter-Mackie 1995 - - Germline - - - - - DNA SEQ - - MLD - PubMed: Coulter-Mackie 1995 - F no Canada - 02y10m - - - 1 Alessandra Biffi
+/+ 2i c.465+1G>A r.spl? p.? - Both (homozygous) - pathogenic g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Polten 1991, Journal: Polten 1991 - - Germline ? - - - - DNA ASO, SEQ - - MLD PatI/I PubMed: Polten 1991, Journal: Polten 1991 - ? ? Germany - - - - - 1 Alessandra Biffi
+/+ 2i c.465+1G>A r.spl? p.? - Parent #2 - pathogenic g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Polten 1991, Journal: Polten 1991 - - Germline ? - - - - DNA ASO, SEQ - - MLD PatIA PubMed: Polten 1991, Journal: Polten 1991 - ? ? Germany - - - - - 1 Alessandra Biffi
+/+ 2i c.465+1G>A r.0? p.? - Both (homozygous) - pathogenic g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Barth 1993 - - Germline ? - - - - DNA ? - - MLD Pat3 PubMed: Barth 1993 - ? ? United Kingdom (Great Britain) British - - - - 1 Alessandra Biffi
+/+ 2i c.465+1G>A r.spl? p.? - Both (homozygous) - pathogenic g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Barth 1993 - - Germline ? - - - - DNA ASO - - MLD Pat6 PubMed: Barth 1993 - ? ? United Kingdom (Great Britain) british - - - - 1 Alessandra Biffi
+/+ 2i c.465+1G>A r.0? p.? - Parent #2 - pathogenic g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Barth 1993 - - Germline - - - - - DNA ASO - - MLD Pat10 PubMed: Barth 1993 - ? ? United Kingdom (Great Britain) white - - - - 1 Alessandra Biffi
+/+ 2i c.465+1G>A r.spl? p.? - Both (homozygous) - pathogenic g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Zlotogora 1994, Journal: Zlotogora 1994 - - Germline - - - - - DNA ? - - MLD - PubMed: Zlotogora 1994, Journal: Zlotogora 1994 - ? yes Israel arab - - - - 1 Alessandra Biffi
+/+ 2i c.465+1G>A r.spl? p.? - Both (homozygous) - pathogenic g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Zlotogora 1994, Journal: Zlotogora 1994 - - Germline - - - - - DNA ? - - MLD - PubMed: Zlotogora 1994, Journal: Zlotogora 1994 - ? yes Israel arab - - - - 1 Alessandra Biffi
+/+ 2i c.465+1G>A r.spl? p.? - Both (homozygous) - pathogenic g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Zlotogora 1994, Journal: Zlotogora 1994 - - Germline - - - - - DNA ? - - MLD - PubMed: Zlotogora 1994, Journal: Zlotogora 1994 - ? yes Israel arab - - - - 1 Alessandra Biffi
+/+ 2i c.465+1G>A r.spl? p.? - Both (homozygous) - pathogenic g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Zlotogora 1994, Journal: Zlotogora 1994 - - Germline - - - - - DNA ? - - MLD - PubMed: Zlotogora 1994, Journal: Zlotogora 1994 - ? yes Israel arab - - - - 1 Alessandra Biffi
+/+ 2i c.465+1G>A r.spl? p.? - Parent #1 - pathogenic g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 segregation in cis with c.585C>T and c.1178C>G polymorphisms PubMed: Barth 1995, Journal: Barth 1995 - - Germline - - - - - DNA CMC - - MLD Pat2 PubMed: Barth 1995, Journal: Barth 1995 - F ? Hungary white - - - - 1 Alessandra Biffi
+/+ 2i c.465+1G>A r.spl? p.? - Parent #2 - pathogenic g.51065593C>T g.50627165C>T 465+1G>A - ARSA_000002 - PubMed: Grossi 2008, Journal: Grossi 2008 - - Germline - - - - - DNA SEQ - - MLD Pat4 PubMed: Grossi 2008 - F no Italy - - - - - 1 SIB - Livia Famiglietti
+/. - c.465+1G>A r.spl? p.? - Unknown - pathogenic g.51065593C>T g.50627165C>T ARSA(NM_000487.5):c.465+1G>A (p.?), ARSA(NM_000487.6):c.465+1G>A - ARSA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.465+1G>A r.spl? p.? - Unknown - pathogenic g.51065593C>T g.50627165C>T ARSA(NM_000487.5):c.465+1G>A (p.?), ARSA(NM_000487.6):c.465+1G>A - ARSA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.465+1G>A r.spl p.? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T - - ARSA_000002 - PubMed: Barth 1993 - - Germline - - - - - DNA SEQ - - MLD - PubMed: Barth 1993 - - - United Kingdom (Great Britain) white - - - - 1 Alessandra Biffi
+/. - c.465+1G>A r.spl p.? - Paternal (confirmed) - pathogenic (recessive) g.51065593C>T g.50627165C>T G609>A - ARSA_000002 - PubMed: Kappler 1994 - - Germline - - - - - DNA SEQ - - MLD - PubMed: Kappler 1994 - - - Germany Germany (east) - - - - 1 Alessandra Biffi
+/+ - c.465+1G>A r.spl p.? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Barth 1995 - - Germline - - - - - DNA SEQ - - MLD Pat5 PubMed: Barth 1995 - M - United Kingdom (Great Britain) white - - - - 1 Alessandra Biffi
+/. - c.465+1G>A r.spl p.? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Barth 1995 - - Germline - - - - - DNA SEQ - - MLD Pat3 PubMed: Barth 1995 - M no United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.465+1G>A r.spl p.? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Barth 1995 - - Germline - - - - - DNA MIPsm - - MLD Pat4 PubMed: Barth 1995 - M - United Kingdom (Great Britain) white - - - - 1 Alessandra Biffi
+/. - c.465+1G>A r.spl p.? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T - - ARSA_000002 - PubMed: Gort 1999 - - Germline - - - - - DNA SEQ - - MLD L3 PubMed: Gort 1999 - - - Spain - - - - - 1 SIB - Livia Famiglietti
+/. - c.465+1G>A r.spl p.? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T - - ARSA_000002 - PubMed: Gort 1999 - - Germline - - - - - DNA SEQ - - MLD L18 PubMed: Gort 1999 - - - Spain - - - - - 1 SIB - Livia Famiglietti
+/. - c.465+1G>A r.spl p.? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T - - ARSA_000002 - PubMed: Gort 1999 - - Germline - - - - - DNA SEQ - - MLD L10a PubMed: Gort 1999 Sibling of L10a - - Spain - - - - - 2 SIB - Livia Famiglietti
+/. - c.465+1G>A r.spl? p.? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T - - ARSA_000002 - PubMed: Gort 1999 - - Germline - - - - - DNA SEQ - - MLD L26 PubMed: Gort 1999 - - - Spain - - - - - 1 SIB - Livia Famiglietti
+/. - c.465+1G>A r.spl p.? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T - - ARSA_000002 - PubMed: Comabella 2001 - - Germline - - - - - DNA SEQ - - MLD mother PubMed: Comabella 2001 2-generation family, affected/mother/daugther, unaffected heterozygous carrier parents F - Spain - - - - - 2 Johan den Dunnen
+/. - c.465+1G>A r.spl p.? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T - - ARSA_000002 - PubMed: Eng 2003 - - Germline - - - - - DNA SEQ - - MLD - PubMed: Eng 2003 - - - United States - - - - - 1 SIB - Livia Famiglietti
+/. - c.465+1G>A r.spl p.? - Maternal (confirmed) - pathogenic (recessive) g.51065593C>T g.50627165C>T - - ARSA_000002 - PubMed: Kumperscak 2007 - - Germline yes - - - - DNA SEQ - - MLD 260 PubMed: Kumperscak 2007 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents F - Slovenia - - - - - 2 Johan den Dunnen
+/. - c.465+1G>A r.spl p.? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T - - ARSA_000002 - Journal: Biffi 2008 - - Germline yes - - - - DNA SEQ - - MLD Pt 19b Journal: Biffi 2008 sib of 285 F no Italy - 10y3m - - - 1 Martina Cesani
+/+? - c.465+1G>A r.0 p.0? - Both (homozygous) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Heinisch 1995 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Heinisch 1995 - - yes Israel Arab - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Both (homozygous) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Heinisch 1995 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Heinisch 1995 - - yes Israel Arab - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Both (homozygous) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Heinisch 1995 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Heinisch 1995 - - yes Israel Arab - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Hess 1996 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Hess 1996 - - - - - - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Lissens 1996 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Lissens 1996 - - - Belgium white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Lissens 1996 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Lissens 1996 - - - Belgium white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Berger 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Berger 1997 - F - Austria white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Berger 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Berger 1997 - F - Austria white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Berger 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Berger 1997 - M - Austria white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Berger 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Berger 1997 - M - Austria white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Draghia 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat4 PubMed: Draghia 1997 - - - France - - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Draghia 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat8 PubMed: Draghia 1997 - - - France - - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Draghia 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat18 PubMed: Draghia 1997 - - - France - - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Draghia 1997 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat10 PubMed: Draghia 1997 - - - France - - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Gomez-Lira 1998 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat1 PubMed: Gomez-Lira 1998 - M no Italy white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Regis 1998 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Regis 1998 - F yes Italy white 06y - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Both (homozygous) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Gort 1999 - - Germline - - - - - DNA SEQ leukocytes - MLD L5a PubMed: Gort 1999 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Spain white - - - - 2 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Both (homozygous) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Gort 1999 - - Germline - - - - - DNA SEQ leukocytes - MLD L5b PubMed: Gort 1999 sib of 117 - - Spain white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Gort 1999 - - Germline - - - - - DNA SEQ leukocytes - MLD L32 PubMed: Gort 1999 - - - Spain white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Gort 1999 - - Germline - - - - - DNA SEQ leukocytes - MLD L48 PubMed: Gort 1999 - - - Spain white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Gort 1999 - - Germline - - - - - DNA SEQ leukocytes - MLD L49 PubMed: Gort 1999 - - - Spain white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Gort 1999 - - Germline - - - - - DNA SEQ leukocytes - MLD L10b PubMed: Gort 1999 sib of L10a - - Spain white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Marcao 1999 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Marcao 1999 - - - Portugal white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Gort 2000 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Gort 2000 - - - Spain white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Paternal (confirmed) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Baumann 2002 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Comabella 2001 daughter of 149 F yes Spain white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Baumann 2002 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Baumann 2002 - F - France - - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Baumann 2002 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Baumann 2002 - F - France - - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #1 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Coulter-Mackie 2003 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Coulter-Mackie 2003 - F no Canada white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #1 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Coulter-Mackie 2003 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Coulter-Mackie 2003 - - - United Kingdom (Great Britain) white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Rafi 2003 - - Germline - - - - - DNA SEQ leukocytes - MLD Fam3 PubMed: Rafi 2003 - - - - - - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Rafi 2003 - - Germline - - - - - DNA SEQ leukocytes - MLD Fam4 PubMed: Rafi 2003 - - - - - - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Rafi 2003 - - Germline - - - - - DNA SEQ leukocytes - MLD Fam8 PubMed: Rafi 2003 - - - - - - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Rafi 2003 - - Germline - - - - - DNA SEQ leukocytes - MLD Fam9 PubMed: Rafi 2003 - - - - - - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Both (homozygous) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Berna 2004, Journal: Berna 2004 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat1 PubMed: Berna 2004, Journal: Berna 2004 - F - Czech Republic - - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Both (homozygous) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Berna 2004, Journal: Berna 2004 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat2 PubMed: Berna 2004, Journal: Berna 2004 - M - Czech Republic - - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Both (homozygous) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Berna 2004, Journal: Berna 2004 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat3 PubMed: Berna 2004, Journal: Berna 2004 - M - Czech Republic - - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Maternal (confirmed) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Eng 2004 - - Germline - - - - - DNA SEQ leukocytes - MLD - PubMed: Eng 2004 - F no Canada white 02y09m - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #1 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Yaghootfam 2004 - - Germline - - - - - DNA SEQ leukocytes - MLD PatJ PubMed: Yaghootfam 2004 - M - - - - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Both (homozygous) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Lugowska 2005 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat1 PubMed: Lugowska 2005 - - - Poland white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Both (homozygous) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Lugowska 2005 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat2 PubMed: Lugowska 2005 - - - Poland white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Both (homozygous) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Lugowska 2005 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat3 PubMed: Lugowska 2005 - - - Poland white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Both (homozygous) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Lugowska 2005 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat4 PubMed: Lugowska 2005 - - - Poland white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Lugowska 2005 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat6 PubMed: Lugowska 2005 - - - Poland white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Lugowska 2005 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat7 PubMed: Lugowska 2005 - - - Poland white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Lugowska 2005 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat8 PubMed: Lugowska 2005 - - - Poland white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Lugowska 2005 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat10 PubMed: Lugowska 2005 - - - Poland white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Maternal (confirmed) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Bertelli 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Fam1 PubMed: Bertelli 2006 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M - Italy white - - - - 2 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Maternal (confirmed) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Bertelli 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Fam1 PubMed: Bertelli 2006 sib of 225 M - Italy white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Maternal (confirmed) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Bertelli 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Fam2 PubMed: Bertelli 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Paternal (confirmed) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Bertelli 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Fam4 PubMed: Bertelli 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Maternal (confirmed) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Bertelli 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Fam8 PubMed: Bertelli 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat35 PubMed: Rauschka 2006 affected sister/brother F - France white - - - - 2 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat36 PubMed: Rauschka 2006 brother Pat35 M - France white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat37 PubMed: Rauschka 2006 - F - France white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat38 PubMed: Rauschka 2006 - F - France white - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Parent #2 - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Rauschka 2006 - - Germline - - - - - DNA SEQ leukocytes - MLD Pat41 PubMed: Rauschka 2006 - M - United States - - - - - 1 Alessandra Biffi
+/+? - c.465+1G>A r.0 p.0? - Maternal (confirmed) - pathogenic (recessive) g.51065593C>T g.50627165C>T 459+1G>A - ARSA_000002 - PubMed: Kumperscak 2007 - - Germline - - - - - DNA SEQ leukocytes - MLD 261 PubMed: Kumperscak 2007 sib 260 F - Slovenia white - - - - 1 Alessandra Biffi
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