Full data view for gene ALPL

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

7 entries on 1 page. Showing entries 1 - 7.
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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     
./. - c.455G>A r.(?) p.(Arg152His) - Unknown - pathogenic (recessive) g.21889760G>A g.21563267G>A - - ALPL_000002 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 5 c.455G>A r.(?) p.(Arg152His) - Unknown - VUS g.21889760G>A g.21563267G>A - - ALPL_000002 - - - - Germline - - - 0 - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.455G>A r.(?) p.(Arg152His) - Unknown - VUS g.21889760G>A g.21563267G>A - - ALPL_000002 - - - - Germline - - - 0 - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.455G>A r.(?) p.(Arg152His) - Unknown - benign g.21889760G>A g.21563267G>A ALPL(NM_000478.4):c.455G>A (p.(Arg152His)), ALPL(NM_000478.5):c.455G>A (p.R152H) - ALPL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.455G>A r.(?) p.(Arg152His) - Unknown - likely benign g.21889760G>A g.21563267G>A ALPL(NM_000478.4):c.455G>A (p.(Arg152His)), ALPL(NM_000478.5):c.455G>A (p.R152H) - ALPL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.455G>A r.(?) p.(Arg152His) - Unknown - benign g.21889760G>A g.21563267G>A Arg135His - ALPL_000002 copied from {DB:ALPL} PubMed: Mumm 2002 - - Germline - 0.02 (in 168 individuals) - 0 - DNA DHPLC - - Healthy/Control - PubMed: Mumm 2002 - - - United States - - 0 - - 1 Johan den Dunnen
+?/. 5 c.455G>A - p.Arg152His 0.83 relative activity, 1.05 WT/combined activity Unknown - NA g.21889760G>A g.21563267G>A - - ALPL_000002 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
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