Variant #0000187992 (NC_000005.9:g.(?_70220768)_(70248837_?)del, SMN1(NM_000344.3):c.(?_-163)_(*575_?)del)

Individual ID 00116750
Chromosome 5
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_70220768)_(70248837_?)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID SMN1_000036 See all 72 reported entries
Variant remarks -
Reference PubMed: Rochette 1997
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     
SMN1 NM_000344.3 +/+ _1_9_ c.(?_-163)_(*575_?)del r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117210 DNA SEQ - - SMN1 2 Johan den Dunnen