Variant #0000670417 (NC_000004.11:g.(?_52886861)_(52894262_52894895)del, SGCB(NM_000232.4):c.(621+1_626-1)_*3262{0})

Individual ID 00305579
Chromosome 4
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_52886861)_(52894262_52894895)del
DNA change (hg38) g.(?_52020695)_(52028096_52028729)del
Published as deletion ex5-6
ISCN -
DB-ID SGCB_000143
Variant remarks ACMG PVS1, PM3, PP1, PP4
Reference PubMed: Xie 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGCB NM_000232.4 +/. 4i_6_ c.(621+1_626-1)_*3262{0} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000306708 DNA PCRq;SEQ;SEQ-NG - candidate gene panel SGCB 2 Johan den Dunnen