Full data view for gene ENPP1

Information The variants shown are described using the NM_006208.2 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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     
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Both (homozygous) - pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Stella 2016 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected F ? Ireland - 2m - - - 1 Yvonne Nitschke
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Both (homozygous) - pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - Van de Woestijne 1988 (Ped.Pathol. 8:675–676), PubMed: Levine 2001, PubMed: Rutsch 2008 - - Germline - - - - - DNA SEQ - - GACI1 - Van de Woestijne 1988 (Ped.Pathol. 8:675–676), PubMed: Levine 2001, PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds M no United States - 0d - - - 2 Yvonne Nitschke
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Both (homozygous) - pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Rutsch 2008 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affected, 1 unaffected sibs F no Canada - 1d - - - 2 Yvonne Nitschke
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Both (homozygous) - pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Rutsch 2008 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds M no Ireland - 9d - - - 2 Yvonne Nitschke
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Both (homozygous) - pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - Van de Woestijne 1988 (Ped.Pathol. 8:675–676), PubMed: Bellah 1992, PubMed: Ruf 2005 - - Germline - - - - - DNA SEQ - - GACI1 - Van de Woestijne 1988 (Ped.Pathol. 8:675–676), PubMed: Bellah 1992, PubMed: Ruf 2005 2-generation family, unaffected heterozygous carrier parents, 3 affecteds, 3 unaffected sibs F no United States Ireland 1d - - - 3 Yvonne Nitschke
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Both (homozygous) - pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - Van de Woestijne 1988 (Ped.Pathol. 8:675–676), PubMed: Bellah 1992, PubMed: Ruf 2005 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Stella 2016 sister Fam9Pat10 F no United States Ireland 7m14d - - - 1 Yvonne Nitschke
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Paternal (confirmed) - pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Inwald 2006, PubMed: Rutsch 2008 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Inwald 2006, PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds F no United Kingdom (Great Britain) - 5m - - - 2 Yvonne Nitschke
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Paternal (confirmed) - pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Rutsch 2008 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds, 2 unaffected sibs M no Ireland - 4m14d - - - 2 Yvonne Nitschke
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Paternal (confirmed) - pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Ciana 1997 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Ciana 1997 2-generation family, unaffected heterozygous carrier parents, 2 affecteds F no Italy;Germany;United States - - - - - 2 Yvonne Nitschke
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Maternal (confirmed) - pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Ciana 1997 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Ciana 1997 sister Fam14Pat17 F no Italy;Germany;United States - - - - - 1 Yvonne Nitschke
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Maternal (confirmed) - pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Ruf 2005, PubMed: Rutsch 2008 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Ruf 2005, PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds (twin pair), 1 unaffected sib F no United States - 3m - - - 2 Yvonne Nitschke
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Paternal (confirmed) - pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Stella 2016 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected F no United Kingdom (Great Britain) - - - - - 1 Yvonne Nitschke
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Paternal (confirmed) - pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Rutsch 2008 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds F no United Kingdom (Great Britain) - 4m - - - 2 Yvonne Nitschke
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Maternal (confirmed) - pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Ruf 2005 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Ruf 2005 2-generation family, unaffected heterozygous carrier parents, 3 affecteds (1 twin pair) M no United Kingdom (Great Britain) - 1m14d - - - 3 Yvonne Nitschke
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Maternal (confirmed) - pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Ruf 2005, PubMed: Rutsch 2008 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Ruf 2005, PubMed: Rutsch 2008 twin sister Fam10Pat12 F no United Kingdom (Great Britain) - - - - - 1 Yvonne Nitschke
+/. - c.913C>A r.(?) p.Pro305Thr Unknown - NA g.132181644C>A g.131860504C>A - - ENPP1_000009 cDNA expression cloning HEK293/COS7 cells, no NPP enzyme activity/PPi generation, no localisation plasma membrane PubMed: Stella 2016 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.913C>A r.(?) p.Pro305Thr Parent #1 ACMG pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Both (homozygous) ACMG pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Ruf 2005, PubMed: Rutsch 2008, PubMed: Stella 2016 - - Germline - - - - - DNA SEQ - - CAGI Fam6 PubMed: Ruf 2005, PubMed: Rutsch 2008, PubMed: Stella 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Both (homozygous) ACMG pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Bellah 1992, PubMed: Rutsch 2008, PubMed: Stella 2016 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Bellah 1992, PubMed: Rutsch 2008, PubMed: Stella 2016 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Parent #1 ACMG pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Chiana 2006, PubMed: Ruf 2005, PubMed: Rutsch 2008, PubMed: Stella 2016 - - Germline - - - - - DNA SEQ - - CAGI Fam3PatA PubMed: Chiana 2006, PubMed: Ruf 2005, PubMed: Rutsch 2008, PubMed: Stella 2016 - - - Italy - - - - - 2 Johan den Dunnen
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Parent #1 ACMG pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Chiana 2006, PubMed: Ruf 2005, PubMed: Rutsch 2008, PubMed: Stella 2016 - - Germline - - - - - DNA SEQ - - CAGI Fam3PatB PubMed: Chiana 2006, PubMed: Ruf 2005, PubMed: Rutsch 2008, PubMed: Stella 2016 - - - Italy - - - - - 1 Johan den Dunnen
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Both (homozygous) ACMG pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Ruf 2005 - - Germline - - - - - DNA SEQ - - CAGI Fam1 PubMed: Ruf 2005 - - - United States - - - - - 1 Johan den Dunnen
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Parent #1 ACMG pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Thumbigere-Math 2018, PubMed: Ferreira2021, PubMed: Ferreira2021 - - Germline - - - - - DNA SEQ - - CAGI Pat1;Pat13;Pat6 PubMed: Thumbigere-Math 2018, PubMed: Ferreira2021, PubMed: Ferreira2021 - F - United States - - - - - 1 Johan den Dunnen
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Parent #1 ACMG pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Meng 2017 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Meng 2017 - - - United States - - - - - 1 Johan den Dunnen
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Parent #1 ACMG pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Ferreira2021, PubMed: Ferreira2021 - - Germline - - - - - DNA SEQ - - CAGI Pat14;Pat11 PubMed: Ferreira2021, PubMed: Ferreira2021 - - - United States - - - - - 1 Johan den Dunnen
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Both (homozygous) ACMG pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Both (homozygous) ACMG pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Parent #1 ACMG pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Parent #1 ACMG pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.913C>A r.(?) p.(Pro305Thr) Parent #2 ACMG pathogenic (recessive) g.132181644C>A g.131860504C>A - - ENPP1_000009 - PubMed: Ruf 2005 - - Germline - - - - - DNA SEQ - - CAGI Fam9PatB PubMed: Ruf 2005 - - - United States - - - - - 1 Johan den Dunnen
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