Variant #0000224345 (NC_000004.11:g.52904395G>A, SGCB(NM_000232.4):c.31C>T)

Individual ID 00133568
Chromosome 4
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.52904395G>A
DNA change (hg38) g.52038229G>A
Published as -
ISCN -
DB-ID SGCB_000010 See all 15 reported entries
Variant remarks -
Reference PubMed: Ginjaar 2000
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 Ieke Ginjaar
Database submission license No license selected
Created by Ieke Ginjaar
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGCB NM_000232.4 +/. 1 c.31C>T r.(?) p.(Gln11*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000134405 DNA SEQ - - SGCA 2 Ieke Ginjaar