chr3:121696873:T>C Detail (hg38) (GOLGB1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:121,415,720-121,415,720 View the variant detail on this assembly version. |
hg38 | chr3:121,696,873-121,696,873 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001256487.1:c.3635A>G | NP_001243416.1:p.Tyr1212Cys |
NM_004487.4:c.3635A>G | NP_004478.3:p.Tyr1212Cys | |
NM_001256486.1:c.3650A>G | NP_001243415.1:p.Tyr1217Cys |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.372 |
ToMMo:0.352 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.461 |
Prediction
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Cerebrovascular accident | One mutation in GOLGB1 (Y1212C) and another mutation in ENPP1 (K173Q) were confi... | BeFree | 23422753 | Detail |
<0.001 | Cerebrovascular accident | One mutation in GOLGB1 (Y1212C) and another mutation in ENPP1 (K173Q) were confi... | BeFree | 23422753 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
One mutation in GOLGB1 (Y1212C) and another mutation in ENPP1 (K173Q) were confirmed as having signi... | DisGeNET | Detail |
One mutation in GOLGB1 (Y1212C) and another mutation in ENPP1 (K173Q) were confirmed as having signi... | 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
- chr3:121,696,873-121,696,873
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 98.65
- Standard deviation of sample read depth (HGVD)
- 50.19
- Number of reference allele (HGVD)
- 1520
- Number of alternative allele (HGVD)
- 900
- Allele Frequency (HGVD)
- 0.371900826446281
- Gene Symbol (HGVD)
- GOLGB1
- 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))
- rs3732410
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3521
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5901
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8646
- East Asian Allele Counts (ExAC)
- 3990
- East Asian Heterozygous Counts (ExAC)
- 2120
- East Asian Homozygous Counts (ExAC)
- 935
- East Asian Allele Frequency (ExAC)
- 0.4614850798056905
- Chromosome Counts in All Race (ExAC)
- 121376
- Allele Counts in All Race (ExAC)
- 28045
- Heterozygous Counts in All Race (ExAC)
- 20569
- Homozygous Counts in All Race (ExAC)
- 3738
- Allele Frequency in All Race (ExAC)
- 0.23105885842341153
Genome browser