Full data view for gene ALPL

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     

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.(1309+1_1310-1)_*764{0} r.? p.? - Parent #2 - likely pathogenic g.(21903135_21903875)_(21904905_?)del g.(21576642_21577382)_(21578412_?)del del ex12 - ALPL_000434 - PubMed: Lia-Baldini 2001 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Lia-Baldini 2001 - - - - - - 0 - - 1 Johan den Dunnen
+?/. 11i_12_ c.(1309+1_1310-1)_*764{0} r.? p.? 36 U/L parent Parent #1 - likely pathogenic (recessive) g.(21903135_21903875)_(21904905_?)del g.(21576642_21577382)_(21578412_?)del del ex12 (3' end) - ALPL_000434 - PubMed: Spentchian 2006 - - Germline - - - 0 - DNA SEQ - - HPP Pat8 PubMed: Spentchian 2006 - - - Germany - - 0 - - 1 Johan den Dunnen
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