chr11:117397168:A>G Detail (hg38) (CEP164)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:117,267,884-117,267,884 View the variant detail on this assembly version. |
| hg38 | chr11:117,397,168-117,397,168 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001271933.1:c.3356A>G | NP_001258862.1:p.Gln1119Arg |
| NM_014956.4:c.3356A>G | NP_055771.4:p.Gln1119Arg | |
| Ensemble | ENST00000278935.8:c.3356A>G | ENST00000278935.8:p.Gln1119Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.405 |
| ToMMo:0.404 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.333 |
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
|
2024-01-31 | criteria provided, multiple submitters, no conflicts | nephronophthisis 15 |
germline
|
Detail |
|
Benign
|
2021-05-04 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Hepatocarcinogenesis | These included novel SNPs for hepatocarcinogenesis with HCV CCND2 rs1049606, RAD... | BeFree | 22004425 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_014956.5(CEP164):c.3356A>G (p.Gln1119Arg) AND not specified | ClinVar | Detail |
| NM_014956.5(CEP164):c.3356A>G (p.Gln1119Arg) AND Nephronophthisis 15 | ClinVar | Detail |
| NM_014956.5(CEP164):c.3356A>G (p.Gln1119Arg) AND not provided | ClinVar | Detail |
| These included novel SNPs for hepatocarcinogenesis with HCV CCND2 rs1049606, RAD23B rs1805329, CEP16... | 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
- rs573455 dbSNP
- Genome
- hg38
- Position
- chr11:117,397,168-117,397,168
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1136
- Mean of sample read depth (HGVD)
- 30.04
- Standard deviation of sample read depth (HGVD)
- 13.71
- Number of reference allele (HGVD)
- 1352
- Number of alternative allele (HGVD)
- 920
- Allele Frequency (HGVD)
- 0.40492957746478875
- Gene Symbol (HGVD)
- CEP164
- 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))
- rs573455
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4039
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6769
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8622
- East Asian Allele Counts (ExAC)
- 2869
- East Asian Heterozygous Counts (ExAC)
- 1953
- East Asian Homozygous Counts (ExAC)
- 458
- East Asian Allele Frequency (ExAC)
- 0.33275342147993503
- Chromosome Counts in All Race (ExAC)
- 121284
- Allele Counts in All Race (ExAC)
- 58846
- Heterozygous Counts in All Race (ExAC)
- 28984
- Homozygous Counts in All Race (ExAC)
- 14931
- Allele Frequency in All Race (ExAC)
- 0.4851917812737047
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