Variant #0000697066 (NC_000004.11:g.52904395G>A, SGCB(NM_000232.4):c.31C>T)

Individual ID 00313855
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: Ten Dam 2019
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 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.31C>T r.(?) p.(Gln11*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000315027 DNA SEQ - - SGCB 2 Ieke Ginjaar