Variant #0000001092 (NC_000005.9:g.(70240581_70241892)_(70247822_70248265)del, SMN1(NM_000344.3):c.(723+1_724-1)_(*3+1_*4-1)del)

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.(70240581_70241892)_(70247822_70248265)del
DNA change (hg38) 9.(70944754_70946065)_(70951995_70952438)del
Published as del ex7-8
ISCN -
DB-ID SMN1_000050 See all 2 reported entries
Variant remarks -
Reference PubMed: Bell 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Gerard C.P. Schaafsma
Database submission license No license selected
Created by Gerard C.P. Schaafsma
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMN1 NM_000344.3 +/. 7i_9i 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