Variant #0000311613 (NC_000010.10:g.104389832C>A, SUFU(NM_016169.3):c.1375C>A)

Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.104389832C>A
DNA change (hg38) g.102630075C>A
Published as SUFU(NM_016169.3):c.1375C>A (p.P459T)
ISCN -
DB-ID SUFU_000011
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license No license selected
Created by VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SUFU NM_016169.3 ?/. - c.1375C>A r.(?) p.(Pro459Thr)