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.211C>G r.(?) p.(Arg71Gly) - ACMG pathogenic g.21887619C>G g.21561126C>G Arg54Gly - ALPL_000091 - PubMed: Tenorio 2017 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.211C>G r.(?) p.(Arg71Gly) - ACMG pathogenic g.21887619C>G g.21561126C>G Arg54Gly - ALPL_000091 no variant 2nd allele copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Research center for medical genetics, Moscow, June 2015 - - Germline - - - 0 - Johan den Dunnen
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