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     
+/. 4 c.203C>T r.(?) p.(Thr68Met) - Unknown ACMG pathogenic g.21887611C>T g.21561118C>T Thr51Met - ALPL_000088 - PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.203C>T r.(?) p.(Thr68Met) - Parent #1 ACMG pathogenic g.21887611C>T g.21561118C>T Thr51Met - ALPL_000088 - PubMed: Orimo 2002 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Orimo 2002 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.203C>T r.(?) p.(Thr68Met) - Parent #1 ACMG pathogenic g.21887611C>T g.21561118C>T Thr51Met - ALPL_000088 - PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.203C>T r.(?) p.(Thr68Met) - Parent #2 ACMG pathogenic g.21887611C>T g.21561118C>T - - ALPL_000088 - PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.203C>T r.(?) p.(Thr68Met) - Parent #2 ACMG pathogenic g.21887611C>T g.21561118C>T - - ALPL_000088 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Nov. 2013, PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Nov. 2013, PubMed: del Angel 2020 - - - France - - 0 - - 1 Johan den Dunnen
+/. 4 c.203C>T r.(?) p.(Thr68Met) - Parent #1 ACMG pathogenic g.21887611C>T g.21561118C>T Thr51Met - ALPL_000088 - PubMed: Mao 2019 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Mao 2019 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.203C>T - p.Thr68Met 0.03 relative activity, 0.37 WT/combined activity Unknown - NA g.21887611C>T g.21561118C>T - - ALPL_000088 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
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