chr16:88430169:C>T Detail (hg38) (ZNF469)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:88,496,577-88,496,577 View the variant detail on this assembly version. |
| hg38 | chr16:88,430,169-88,430,169 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001127464.2:c.2699C>T | NP_001120936.2:p.Pro900Leu |
| Ensemble | ENST00000437464.1:c.2699C>T | ENST00000437464.1:p.Pro900Leu |
| ENST00000565624.3:c.2699C>T | ENST00000565624.3:p.Pro900Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
no assertion criteria provided | Keratoconus 1 |
germline
|
Detail | |
Uncertain significance
|
2016-06-14 | criteria provided, single submitter | brittle cornea syndrome 1 |
germline
|
Detail |
Benign
Likely benign
|
2024-01-22 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Likely benign
|
2021-11-24 | criteria provided, single submitter |
germline
|
Detail | |
|
Likely benign
|
2019-12-06 | criteria provided, single submitter | ZNF469-related disorder |
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.2699C>T (p.Pro900Leu) AND Keratoconus 1 | ClinVar | Detail |
| NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu) AND Brittle cornea syndrome 1 | ClinVar | Detail |
| NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu) AND not provided | ClinVar | Detail |
| NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu) AND ZNF469-related disorder | 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
- rs273585618 dbSNP
- Genome
- hg38
- Position
- chr16:88,430,169-88,430,169
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 248
- 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)
- 12480
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.403846153846154E-4
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