chr16:88501809:G>A Detail (hg19) (ZNF469)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:88,501,809-88,501,809 |
| hg38 | chr16:88,435,401-88,435,401 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001127464.2:c.7847G>A | NP_001120936.2:p.Arg2616Gln |
| Ensemble | ENST00000565624.3:c.7931G>A | ENST00000565624.3:p.Arg2644Gln |
| ENST00000437464.1:c.7847G>A | ENST00000437464.1:p.Arg2616Gln |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:<0.001 |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Likely pathogenic
|
no assertion criteria provided | Keratoconus 1 |
germline
|
Detail | |
|
Uncertain significance
|
2021-07-12 | criteria provided, single submitter |
germline
|
Detail | |
|
Uncertain significance
|
2023-02-16 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Keratoconus 1 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001367624.2(ZNF469):c.7931G>A (p.Arg2644Gln) AND Keratoconus 1 | ClinVar | Detail |
| NM_001367624.2(ZNF469):c.7931G>A (p.Arg2644Gln) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_001367624.2(ZNF469):c.7931G>A (p.Arg2644Gln) AND not provided | ClinVar | Detail |
| NA | 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
- rs281865152 dbSNP
- Genome
- hg19
- Position
- chr16:88,501,809-88,501,809
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1199
- Mean of sample read depth (HGVD)
- 135.46
- Standard deviation of sample read depth (HGVD)
- 66.95
- Number of reference allele (HGVD)
- 2397
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 4.170141784820684E-4
- Gene Symbol (HGVD)
- ZNF469
- 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))
- rs281865152
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0002
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 578
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 19014
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 5.259282633848743E-5
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