chr3:105702190:C>T Detail (hg38) (CBLB)

Information

Genome

Assembly Position
hg19 chr3:105,421,034-105,421,034 View the variant detail on this assembly version.
hg38 chr3:105,702,190-105,702,190

HGVS

Type Transcript Protein
RefSeq NM_001321820.1:c.1863G>A NP_001308749.1:p.Ala621=
NM_001321822.1:c.1863G>A NP_001308751.1:p.Ala621=
Ensemble ENST00000394030.8:c.1863G>A ENST00000394030.8:p.Ala621=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.136
ToMMo:0.152
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.125

Prediction

ClinVar

Clinical Significance Benign
Review star
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 tgv13631518 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-05-28 criteria provided, single submitter CBLB-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 Diabetes Mellitus, Insulin-Dependent Furthermore, evidence of a statistical interaction with the known T1D susceptibi... BeFree 17209142 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170662.5(CBLB):c.1863G>A (p.Ala621=) AND CBLB-related disorder ClinVar Detail
Furthermore, evidence of a statistical interaction with the known T1D susceptibility-associated CTLA... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr3:105,702,190-105,702,190
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
146.10
Standard deviation of sample read depth (HGVD)
68.07
Number of reference allele (HGVD)
2090
Number of alternative allele (HGVD)
330
Allele Frequency (HGVD)
0.13636363636363635
Gene Symbol (HGVD)
CBLB
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))
rs3772534
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1521
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2550
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8638
East Asian Allele Counts (ExAC)
1078
East Asian Heterozygous Counts (ExAC)
946
East Asian Homozygous Counts (ExAC)
66
East Asian Allele Frequency (ExAC)
0.12479740680713128
Chromosome Counts in All Race (ExAC)
121386
Allele Counts in All Race (ExAC)
3955
Heterozygous Counts in All Race (ExAC)
3683
Homozygous Counts in All Race (ExAC)
136
Allele Frequency in All Race (ExAC)
0.03258201110506978
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