Variant #0000876962 (NC_000010.10:g.104263980del, NM_016169.3:c.71del (SUFU))

Individual ID 00416044
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.104263980del
DNA change (hg38) g.102504223del
Published as -
ISCN -
DB-ID ACTR1A_000004 See all 5 reported entries
Variant remarks -
Reference PubMed: Serpieri 2022
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-08-22 15:57:28 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SUFU NM_016169.3 +/. - c.71del r.(?) p.(Pro24ArgfsTer72)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000417324 DNA SEQ;SEQ-NG - - - 1 Johan den Dunnen


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