Variant #0000224424 (NC_000004.11:g.52904422_52904447dup, SGCB(NM_000232.4):c.-18_8dup)

Individual ID 00133612
Chromosome 4
Allele Parent #1
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.52904422_52904447dup
DNA change (hg38) g.52038256_52038281dup
Published as 4-22_4dup26
ISCN -
DB-ID SGCB_000075 See all 2 reported entries
Variant remarks -
Reference PubMed: Trabelsi 2008, PubMed: Saillour 2008
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 Svetlana Kocheva
Database submission license No license selected
Created by Svetlana Kocheva
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGCB NM_000232.4 +/. 1 c.-18_8dup r.(?) p.(Ala4TrpfsTer18)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000134449 DNA arrayCGH;SEQ - - SGCA 2 Svetlana Kocheva