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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2019-05-28 | criteria provided, single submitter | CBLB-related disorder |
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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
Descrption | Source | Links |
---|---|---|
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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