Variant #0000264339 (NC_000011.9:g.119142514T>C, CBL(NM_005188.3):c.513T>C)

Chromosome 11
Allele Unknown
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.119142514T>C
DNA change (hg38) g.119271804T>C
Published as CBL(NM_005188.3):c.513T>C (p.S171=, p.(Ser171=))
ISCN -
DB-ID CBL_000010 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00443 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CBL NM_005188.3 -/. - c.513T>C r.(?) p.(Ser171=)