Variant #0000187946 (NC_000005.9:g.70220917C>T, SMN1(NM_000344.3):c.-14C>T)

Individual ID 00116708
Chromosome 5
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.70220917C>T
DNA change (hg38) g.70925090C>T
Published as -
ISCN -
DB-ID SMN1_000038 See all 2 reported entries
Variant remarks -
Reference PubMed: Parsons 1998, OMIM:var0006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.15086 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMN1 NM_000344.3 +/. 1 c.-14C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117168 DNA SEQ - - SMN1 3 Johan den Dunnen