Variant #0000542651 (NC_000011.9:g.119077089_119077093dup, CBL(NM_005188.3):c.-39_-35dup)

Chromosome 11
Allele Unknown
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.119077089_119077093dup
DNA change (hg38) g.119206379_119206383dup
Published as CBL(NM_005188.3):c.-40_-36dupGAGCC
ISCN -
DB-ID CBL_000042
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CCDC153 NM_001145018.1 -?/. - c.-10590_-10586dup r.(?) p.(=)
CBL NM_005188.3 -?/. - c.-39_-35dup r.(?) p.(=)