Variant #0000224444 (NC_000004.11:g.52904416_52904447dup, SGCB(NM_000232.4):c.-10_22dup)

Individual ID 00133623
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.52904416_52904447dup
DNA change (hg38) g.52038250_52038281dup
Published as 23_54ins
ISCN -
DB-ID SGCB_000031 See all 17 reported entries
Variant remarks -
Reference PubMed: Klinge 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 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 +/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000134460 DNA SEQ - - SGCA 2 Johan den Dunnen