Variant #0000673565 (NC_000001.10:g.21902329_21902331del, ALPL(NM_000478.4):c.1101_1103del)

Individual ID 00305896
Chromosome 1
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.21902329_21902331del
DNA change (hg38) g.21575836_21575838del
Published as 1101_1103delCTC
ISCN -
DB-ID ALPL_000425
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Sha Hong
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Sha Hong
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
ALPL NM_000478.4 +/. - c.1101_1103del r.(?) p.(Ser368del) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000307027 DNA SEQ-NG - - ALPL 2 Sha Hong