Genomic variant #0000001092

Individual ID 00000037
Chromosome 5
Allele Unknown
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.70241893_70247821del
DNA change (hg38) -
Published as del exons 7 and 8
ISCN -
DB-ID SMN1_000050
Variant remarks Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message.
Reference PubMed: Bell 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMN1 NM_000344.3 +/. 6i_8i c.(723+1_724-1)_(*3+1_*4-1)del r.(del) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000037 DNA SEQ-NG - - ATM, ATP7B, DPYD, ETFB, HEXB, NHLRC1, NPHS1, SBDS, SLC26A2, SLC3A1, SMN1, SMPD1 13 Global Variome, with Curator vacancy