Unique variants in the ENPP2 gene

Information The variants shown are described using the NM_001040092.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.973-1990C>A r.(=) p.(=) - likely benign g.120608090G>T - ENPP2(NM_006209.4):c.1125C>A (p.D375E) - ENPP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2407G>A r.(?) p.(Glu803Lys) - likely benign g.120575111C>T g.119562871C>T ENPP2(NM_001040092.2):c.2407G>A (p.(Glu803Lys)) - ENPP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2530C>T r.(?) p.(Arg844Cys) - likely benign g.120569823G>A g.119557583G>A ENPP2(NM_001040092.2):c.2530C>T (p.(Arg844Cys)) - ENPP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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