All variants in the ALPL gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 4 c.187_205del r.(?) p.(Gly63Leufs*53) - - pathogenic g.21887595_21887613del g.21561102_21561120del 187_205del19 - ALPL_000083 - PubMed: Taillandier 2017 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.187_205del r.(?) p.(Gly63Leufs*53) - - pathogenic g.21887595_21887613del g.21561102_21561120del 187_205del19 - ALPL_000083 no variant 2nd allele copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jan 2010 - - Germline - - - 0 - Johan den Dunnen
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