Variant #0000669046 (NC_000010.10:g.104391584A>G, SUFU(NM_016169.3):c.*1672A>G)

Individual ID 00304229
Chromosome 10
Allele Both (homozygous)
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.104391584A>G
DNA change (hg38) g.102631827A>G
Published as -
ISCN -
DB-ID SUFU_000034 See all 2 reported entries
Variant remarks 1 homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs117196884
Origin Germline
Segregation -
Frequency 1/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SUFU NM_016169.3 -?/. - c.*1672A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000305358 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq