Variant #0000322554 (NC_000011.9:g.119183093C>T, CBL(NM_005188.3):c.*12602C>T)

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.119183093C>T
DNA change (hg38) g.119312383C>T
Published as MCAM(NM_006500.2):c.907G>A (p.(Gly303Arg))
ISCN -
DB-ID MCAM_000005
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) 0.00041 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CBL NM_005188.3 -?/. - c.*12602C>T r.(=) p.(=)
MCAM NM_006500.2 -?/. - c.907G>A r.(?) p.(Gly303Arg)