Variant #0000175040 (NC_000007.13:g.65551781_65551786dup, ASL(NM_000048.3):c.575_580dup)

Individual ID 00108505
Chromosome 7
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.65551781_65551786dup
DNA change (hg38) g.66086794_66086799dup
Published as 580insAGCGGA
ISCN -
DB-ID ASL_000023
Variant remarks enzyme activity below 2%
Reference PubMed: Linnenbank 2002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-04-04 21:25:35 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ASL NM_000048.3 +/. 8 c.575_580dup r.575_580dup p.ins2



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108972 DNA;RNA RT-PCR;SEQ - - ASL 2 Johan den Dunnen