chr3:105586714:T>C Detail (hg19) (CBLB)

Information

Genome

Assembly Position
hg19 chr3:105,586,714-105,586,714
hg38 chr3:105,867,870-105,867,870 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001321820.1:c.-14-279A>G
NM_001321822.1:c.-14-279A>G
Ensemble ENST00000394030.8:c.-14-279A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.588
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 604491 OMIM
HGNC 1542 HGNC
Ensembl ENSG00000114423 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv13635198 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Autoimmune Diseases Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
0.010 multiple sclerosis Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
<0.001 multiple sclerosis Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
0.001 multiple sclerosis Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
<0.001 multiple sclerosis Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
0.002 Autoimmune Diseases Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
<0.001 multiple sclerosis Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
<0.001 multiple sclerosis Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
<0.001 Autoimmune Diseases Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
0.248 multiple sclerosis Variants within the immunoregulatory CBLB gene are associated with multiple scle... GWASCAT 20453840 Detail
0.248 multiple sclerosis [Variants within the immunoregulatory CBLB gene are associated with multiple scl... GAD 20453840 Detail
Annotation

Annotations

DescrptionSourceLinks
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. DisGeNET Detail
[Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.] DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs9657904 dbSNP
Genome
hg19
Position
chr3:105,586,714-105,586,714
Variant Type
snv
Reference Allele
T
Alternative Allele
C
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs9657904
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5879
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9812
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16690
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