Variant #0000175001 (NC_000007.13:g.65547430C>T, ASL(NM_000048.3):c.283C>T)

Individual ID 00108494
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.65547430C>T
DNA change (hg38) g.66082443C>T
Published as -
ISCN -
DB-ID ASL_000007 See all 3 reported entries
Variant remarks enzyme activity ~1%; sporadic, consanguineous parents
Reference PubMed: Walker 1990, OMIM:var0001
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ASL NM_000048.3 +/. 4 c.283C>T r.283c>u p.Arg95Cys



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108961 DNA;RNA RT-PCR;SEQ - - ASL 2 Johan den Dunnen