chr16:81365030:C>T Detail (hg38) (GAN)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:81,398,635-81,398,635 View the variant detail on this assembly version. |
| hg38 | chr16:81,365,030-81,365,030 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000648994.2:c.1293C>T | ENST00000648994.2:p.Tyr431= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.044 |
| ToMMo:0.052 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.030 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
criteria provided, single submitter | not specified |
germline
|
Detail | |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | giant axonal neuropathy 1 |
germline
|
Detail |
|
Benign
|
2015-03-03 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | multiple myeloma | In our retrospective study, we analyzed candidate single-nucleotide polymorphism... | BeFree | 21859556 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_022041.4(GAN):c.1293C>T (p.Tyr431=) AND not specified | ClinVar | Detail |
| NM_022041.4(GAN):c.1293C>T (p.Tyr431=) AND Giant axonal neuropathy 1 | ClinVar | Detail |
| NM_022041.4(GAN):c.1293C>T (p.Tyr431=) AND not provided | ClinVar | Detail |
| In our retrospective study, we analyzed candidate single-nucleotide polymorphisms (SNP), CINP (rs701... | 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
- -
- dbSNP
- rs2608555 dbSNP
- Genome
- hg38
- Position
- chr16:81,365,030-81,365,030
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1176
- Mean of sample read depth (HGVD)
- 31.97
- Standard deviation of sample read depth (HGVD)
- 15.64
- Number of reference allele (HGVD)
- 2249
- Number of alternative allele (HGVD)
- 103
- Allele Frequency (HGVD)
- 0.04379251700680272
- Gene Symbol (HGVD)
- GAN
- 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))
- rs2608555
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.052
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 871
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8644
- East Asian Allele Counts (ExAC)
- 263
- East Asian Heterozygous Counts (ExAC)
- 255
- East Asian Homozygous Counts (ExAC)
- 4
- East Asian Allele Frequency (ExAC)
- 0.03042572882924572
- Chromosome Counts in All Race (ExAC)
- 121336
- Allele Counts in All Race (ExAC)
- 23714
- Heterozygous Counts in All Race (ExAC)
- 18512
- Homozygous Counts in All Race (ExAC)
- 2601
- Allele Frequency in All Race (ExAC)
- 0.1954407595437463
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