Variant #0000187947 (NC_000005.9:g.70220924_70220939del, SMN1(NM_000344.3):c.-7_9del)

Individual ID 00116709
Chromosome 5
Allele Maternal (confirmed)
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.70220924_70220939del
DNA change (hg38) g.70925097_70925112del
Published as -
ISCN -
DB-ID SMN1_000059
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Fang Song
Database submission license No license selected
Created by Fang Song
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMN1 NM_000344.3 +/. 1 c.-7_9del r.-7_9del p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117169 DNA;RNA RT-PCR;SEQ - - SMN1 1 Fang Song