Full data view for gene ENPP1

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

17 entries on 1 page. Showing entries 1 - 17.
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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     
?/. - c.2320C>T r.(?) p.(Arg774Cys) Unknown - VUS g.132206079C>T g.131884939C>T - - ENPP1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.2320C>T r.(?) p.(Arg774Cys) Unknown - VUS g.132206079C>T g.131884939C>T - - ENPP1_000003 - - - - Germline - - - - - DNA SEQ-NG - - GA1 - PubMed: Bell 2011 Coriell sample - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.2320C>T r.(?) p.(Arg774Cys) Unknown - VUS g.132206079C>T g.131884939C>T - - ENPP1_000003 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 23 c.2320C>T r.(?) p.(Arg774Cys) Both (homozygous) - pathogenic (recessive) g.132206079C>T g.131884939C>T - - ENPP1_000003 - PubMed: Rutsch 2003, PubMed: Rutsch 2008 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Rutsch 2003, PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds M yes Turkey - - - - - 2 Yvonne Nitschke
+/. 23 c.2320C>T r.(?) p.(Arg774Cys) Paternal (confirmed) - pathogenic (recessive) g.132206079C>T g.131884939C>T - - ENPP1_000003 - PubMed: Rutsch 2008 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds M no Ireland - - - - - 2 Yvonne Nitschke
+/. 23 c.2320C>T r.(?) p.(Arg774Cys) Paternal (confirmed) - pathogenic (recessive) g.132206079C>T g.131884939C>T - - ENPP1_000003 - 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
+/. 23 c.2320C>T r.(?) p.(Arg774Cys) Parent #1 - pathogenic (recessive) g.132206079C>T g.131884939C>T - - ENPP1_000003 - PubMed: Rutsch 2003 - - Germline - - - - - DNA SEQ - - GACI1 - PubMed: Rutsch 2003, PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affected, 3 unaffected sibs F no Germany - 00y01m - - - 2 Yvonne Nitschke
+?/. - c.2320C>T r.(?) p.Arg774Cys Unknown - NA g.132206079C>T g.131884939C>T - - ENPP1_000003 cDNA expression cloning HEK293/COS7 cells, 0.57 NPP enzyme activity/0.75 PPi generation, localisation plasma membrane PubMed: Stella 2016 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2320C>T r.(?) p.(Arg774Cys) Parent #1 - likely benign g.132206079C>T g.131884939C>T - - ENPP1_000003 171 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28933977 Germline - 171/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 171 Mohammed Faruq
-?/. - c.2320C>T r.(?) p.(Arg774Cys) Both (homozygous) - likely benign g.132206079C>T g.131884939C>T - - ENPP1_000003 6 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28933977 Germline - 6/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
?/. - c.2320C>T r.(?) p.(Arg774Cys) Unknown - VUS g.132206079C>T g.131884939C>T - - ENPP1_000003 - PubMed: Thiele 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HR Pat3 PubMed: Thiele 2020 - F - Germany - - - - - 1 Johan den Dunnen
?/. 23 c.2320C>T r.(?) p.Arg774Cys Parent #1 ACMG VUS g.132206079C>T g.131884939C>T - - ENPP1_000003 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 23 c.2320C>T r.(?) p.(Arg774Cys) Both (homozygous) ACMG VUS g.132206079C>T g.131884939C>T - - ENPP1_000003 - PubMed: Rutsch 2003, PubMed: Rutsch 2008, PubMed: Stella 2016 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Rutsch 2003, PubMed: Rutsch 2008, PubMed: Stella 2016 - - - - - - - - - 1 Johan den Dunnen
?/. 23 c.2320C>T r.(?) p.(Arg774Cys) Parent #1 ACMG VUS g.132206079C>T g.131884939C>T c.[2320C>T;2662C>T] - ENPP1_000003 no variant 2nd chromosome PubMed: Ruf 2005 - - Germline - - - - - DNA SEQ - - CAGI Fam8 PubMed: Ruf 2005 - - - Germany - - - - - 1 Johan den Dunnen
?/. 23 c.2320C>T r.(?) p.(Arg774Cys) Parent #1 ACMG VUS g.132206079C>T g.131884939C>T c.[2320C>T;2662C>T] - ENPP1_000003 - PubMed: Ruf 2005 - - Germline - - - - - DNA SEQ - - CAGI Fam9PatB PubMed: Ruf 2005 - - - United States - - - - - 1 Johan den Dunnen
?/. 23 c.2320C>T r.(?) p.(Arg774Cys) Parent #1 ACMG VUS g.132206079C>T g.131884939C>T - - ENPP1_000003 - PubMed: Ferreira2021, PubMed: Ferreira2021 - - Germline - - - - - DNA SEQ - - CAGI Pat15;Pat7 PubMed: Ferreira2021, PubMed: Ferreira2021 - - - United States - - - - - 1 Johan den Dunnen
?/. 23 c.2320C>T r.(?) p.(Arg774Cys) Both (homozygous) ACMG VUS g.132206079C>T g.131884939C>T - - ENPP1_000003 - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - Germline - - - - - DNA SEQ - - CAGI - PubMed: Mercurio 2022, Journal: Mercurio 2022 - - - - - - - - - 1 Johan den Dunnen
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