Variant #0000648121 (NC_000011.9:g.119156193C>T, CBL(NM_005188.3):c.1858C>T)

Individual ID 00290264
Chromosome 11
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.119156193C>T
DNA change (hg38) g.119285483C>T
Published as -
ISCN -
DB-ID CBL_000030 See all 4 reported entries
Variant remarks 19 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs2227988
Origin Germline
Segregation -
Frequency 19/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00288 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CBL NM_005188.3 -?/. - c.1858C>T r.(?) p.(Leu620Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000291432 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq