Variant #0000224472 (NC_000004.11:g.52904395G>A, SGCB(NM_000232.4):c.31C>T)

Individual ID 00133638
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.52904395G>A
DNA change (hg38) g.52038229G>A
Published as -
ISCN -
DB-ID SGCB_000010 See all 15 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.31C>T r.(?) p.(Gln11*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000134475 DNA PCR;SEQ - - SGCA 2 Tom Winder