Variant #0000188037 (NC_000005.9:g.70234715A>T, SMN1(NM_000344.3):c.131A>T)

Individual ID 00116727
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.70234715A>T
DNA change (hg38) g.70938888A>T
Published as -
ISCN -
DB-ID SMN1_000040
Variant remarks -
Reference PubMed: Sun 2005, OMIM:var0013
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
Date created 2006-03-05 17:10:21 +01:00 (CET)
Date last edited 2012-11-02 20:43:05 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMN1 NM_000344.3 +/. 2 c.131A>T r.(?) p.(Asp44Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117187 DNA SEQ - - SMN1 2 Johan den Dunnen