Variant #0000058575 (NC_000010.10:g.104268860C>A, SUFU(NM_016169.3):c.183-66C>A)

Individual ID 00032349
Chromosome 10
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.104268860C>A
DNA change (hg38) g.102509103C>A
Published as NM_001178133.1:c.183-66C>A
ISCN -
DB-ID SUFU_000001
Variant remarks -
Reference PubMed: Jang 2015, Journal: Jang 2015
ClinVar ID -
dbSNP ID rs185072800
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SUFU NM_016169.3 -?/. 1i c.183-66C>A r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000032416 DNA SEQ;SEQ-NG - - DDX58 10 Johan den Dunnen