chr11:63719914:T>C Detail (hg38) (RTN3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:63,487,386-63,487,386 View the variant detail on this assembly version. |
hg38 | chr11:63,719,914-63,719,914 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001265590.1:c.1355T>C | NP_001252519.1:p.Val452Ala |
NM_201428.2:c.1355T>C | NP_958831.1:p.Val452Ala | |
NM_201430.2:c.143-30077T>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.990 |
ToMMo:0.990 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.989 |
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 |
---|---|---|---|---|---|
0.012 | anemia | Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs54... | BeFree | 24934404 | Detail |
<0.001 | anemia | Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs54... | BeFree | 24934404 | Detail |
<0.001 | anemia | Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs54... | BeFree | 24934404 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs542998 (additive C) ge... | DisGeNET | Detail |
Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs542998 (additive C) ge... | DisGeNET | Detail |
Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs542998 (additive C) ge... | 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
- chr11:63,719,914-63,719,914
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1209
- Mean of sample read depth (HGVD)
- 58.98
- Standard deviation of sample read depth (HGVD)
- 28.53
- Number of reference allele (HGVD)
- 23
- Number of alternative allele (HGVD)
- 2390
- Allele Frequency (HGVD)
- 0.9904682967260672
- Gene Symbol (HGVD)
- RTN3
- 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))
- rs542998
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9902
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16594
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 8555
- East Asian Heterozygous Counts (ExAC)
- 97
- East Asian Homozygous Counts (ExAC)
- 4229
- East Asian Allele Frequency (ExAC)
- 0.9885602033741623
- Chromosome Counts in All Race (ExAC)
- 121404
- Allele Counts in All Race (ExAC)
- 96343
- Heterozygous Counts in All Race (ExAC)
- 17895
- Homozygous Counts in All Race (ExAC)
- 39224
- Allele Frequency in All Race (ExAC)
- 0.7935735231129123
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