Variant #0000697849 (NC_000004.11:g.52904417_52904442dup, SGCB(NM_000232.4):c.-10_16dup)

Individual ID 00314592
Chromosome 4
Allele Both (homozygous)
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.52904417_52904442dup
DNA change (hg38) g.52038251_52038276dup
Published as -
ISCN -
DB-ID SGCB_000083 See all 4 reported entries
Variant remarks -
Reference PubMed: Mojbafan 2020
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 +/. - c.-10_16dup r.(?) p.(Ala6Aspfs*24)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000315765 DNA SEQ - - SGCB 1 Johan den Dunnen