Variant #0000175052 (NC_000007.13:g.65554101A>G, ASL(NM_000048.3):c.857A>G)

Individual ID 00108526
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.65554101A>G
DNA change (hg38) g.66089114A>G
Published as -
ISCN -
DB-ID ASL_000027 See all 6 reported entries
Variant remarks -
Reference PubMed: Walker 1997
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site NciI+
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00012 View details
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 +/. 12 c.857A>G r.857a>g p.Gln286Arg



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108993 DNA;RNA RT-PCR;SEQ - - ASL 2 Johan den Dunnen