All variants in the ALPL gene

Information The variants shown are described using the NM_000478.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     

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     
+?/. _1i_2i c.(-105+1_-104-1)_(61+1_62-1)del r.? p.0? - - pathogenic (recessive) g.(21836011_21880470)_(21880636_21887118)del g.(21509518_21553977)_(21554143_21560625)del del ex2 - ALPL_000429 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, H Mateus, Alexion Pharmaceuticals (USA) - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(-105+1_-104-1)_(61+1_62-1)del r.? p.0? - - pathogenic (recessive) g.(21836011_21880470)_(21880636_21887118)del g.(21509518_21553977)_(21554143_21560625)del del ex2, g.(16650_17870)_(48651_50859)del - ALPL_000429 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab July 2013 - - Germline - - - 0 - Johan den Dunnen
+/. - c.(-105+1_-104-1)_(61+1_62-1)del r.? p.0? - - pathogenic (recessive) g.(21836011_21880470)_(21880636_21887118)del g.(21509518_21553977)_(21554143_21560625)del del ex2, g.(42056_43422)_(46936_47669)del - ALPL_000429 copied from {DB:ALPL}, Versailles lab Nov. 2018 - - - Germline - - - 0 - Johan den Dunnen
Legend   How to query