Variant #0000709995 (NC_000001.10:g.21887167T>C, ALPL(NM_000478.4):c.110T>C)

Individual ID 00325366
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.21887167T>C
DNA change (hg38) g.21560674T>C
Published as Leu20Pro
ISCN -
DB-ID ALPL_000068 See all 2 reported entries
Variant remarks -
Reference copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Oct. 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
ALPL NM_000478.4 +/. 3 c.110T>C r.(?) p.(Leu37Pro) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000326576 DNA SEQ - - ALPL 1 Johan den Dunnen