Variant #0000437163 (NC_000011.9:g.119149251G>A, CBL(NM_005188.3):c.1259G>A)

Individual ID 00206473
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.119149251G>A
DNA change (hg38) g.119278541G>A
Published as Arg420Gln
ISCN -
DB-ID CBL_000004
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) 0 View details
Owner LOVD
Database submission license No license selected
Created by Jacopo Celli
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CBL NM_005188.3 +?/? ? c.1259G>A r.(?) p.(Arg420Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207505 DNA SEQ;DHPLC - - CBL 1 LOVD