Variant #0000437160 (NC_000011.9:g.119148880A>C, CBL(NM_005188.3):c.1100A>C)

Individual ID 00206470
Chromosome 11
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.119148880A>C
DNA change (hg38) g.119278170A>C
Published as Gln367Pro
ISCN -
DB-ID CBL_000001
Variant remarks -
Reference PubMed: Martinelli 2010
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license No license selected
Created by Jacopo Celli
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CBL NM_005188.3 +?/? ? c.1100A>C r.(?) p.(Gln367Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207502 DNA SEQ;DHPLC - - CBL 1 LOVD