Full data view for gene ALPL

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

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     

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     
+?/. _1i_2i c.(-105+1_-104-1)_(61+1_62-1)del r.? p.0? - Parent #1 - 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 - DNA SEQ - - HPP patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, H Mateus, Alexion Pharmaceuticals (USA) - - - United States - - 0 - - 1 Johan den Dunnen
+/. 1i_2i c.(-105+1_-104-1)_(61+1_62-1)del r.? p.0? - Both (homozygous) - 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 - DNA SEQ - - HPP patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab July 2013 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.(-105+1_-104-1)_(61+1_62-1)del r.? p.0? - Parent #1 - 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 - DNA SEQ - - HPP patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Nov. 2018 - - - France - - 0 - - 1 Johan den Dunnen
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