Variant #0000648123 (NC_000011.9:g.119176499T>C, CBL(NM_005188.3):c.*6008T>C)

Individual ID 00290266
Chromosome 11
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.119176499T>C
DNA change (hg38) g.119305789T>C
Published as -
ISCN -
DB-ID CBL_000076 See all 2 reported entries
Variant remarks 252 heterozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs3829261
Origin Germline
Segregation -
Frequency 252/2791 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mohammed Faruq
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     
CBL NM_005188.3 -/. - c.*6008T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000291434 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq