Variant #0000224476 (NC_000004.11:g.52904417_52904442dup, SGCB(NM_000232.4):c.-10_16dup)

Individual ID 00133640
Chromosome 4
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.52904417_52904442dup
DNA change (hg38) g.52038251_52038276dup
Published as -10_16dup26
ISCN -
DB-ID SGCB_000083 See all 4 reported entries
Variant remarks -
Reference -
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 Tom Winder
Database submission license No license selected
Created by Tom Winder
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGCB NM_000232.4 +?/. 1 c.-10_16dup r.(?) p.(Ala6AspfsTer24)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000134477 DNA PCR;SEQ - - SGCA 2 Tom Winder