Variant #0000632329 (NC_000010.10:g.104353824T>C, SUFU(NM_016169.3):c.756+2T>C)

Individual ID 00276349
Chromosome 10
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.104353824T>C
DNA change (hg38) g.102594067T>C
Published as -
ISCN -
DB-ID SUFU_000032
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Gemeinschaftspraxis für Humangenetik Dresden
Database submission license No license selected
Created by Gemeinschaftspraxis für Humangenetik Dresden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SUFU NM_016169.3 +?/. - c.756+2T>C r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000277495 DNA SEQ - - SUFU 1 Gemeinschaftspraxis für Humangenetik Dresden