Variant #0000791647 (NC_000010.10:g.104356986dup, NM_016169.3:c.846dup (SUFU))

Individual ID 00377551
Chromosome 10
Allele Maternal (confirmed)
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.104356986dup
DNA change (hg38) g.102597229dup
Published as 104356981dup
ISCN -
DB-ID SUFU_000043 See all 9 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Valentina Serpieri
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Valentina Serpieri
Date created 2021-07-23 16:25:36 +02:00 (CEST)
Date last edited 2021-08-18 15:28:01 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SUFU NM_016169.3 +/. - c.846dup r.(?) p.(Glu283Argfs*3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000378754 DNA SEQ-NG - - SUFU 1 Valentina Serpieri


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