chr16:88427760:C>T Detail (hg38) (ZNF469)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:88,494,168-88,494,168 View the variant detail on this assembly version. |
| hg38 | chr16:88,427,760-88,427,760 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001127464.2:c.290C>T | NP_001120936.2:p.Pro97Leu |
| Ensemble | ENST00000437464.1:c.290C>T | ENST00000437464.1:p.Pro97Leu |
| ENST00000565624.3:c.290C>T | ENST00000565624.3:p.Pro97Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
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 |
|---|---|---|---|---|---|
Pathogenic
|
no assertion criteria provided | Keratoconus 1 |
germline
|
Detail | |
|
Uncertain significance
|
2021-04-27 | criteria provided, single submitter |
germline
|
Detail | |
|
Uncertain significance
|
2022-07-15 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Uncertain significance
|
2023-02-27 | criteria provided, single submitter | not specified |
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.290C>T (p.Pro97Leu) AND Keratoconus 1 | ClinVar | Detail |
| NM_001367624.2(ZNF469):c.290C>T (p.Pro97Leu) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_001367624.2(ZNF469):c.290C>T (p.Pro97Leu) AND not provided | ClinVar | Detail |
| NM_001367624.2(ZNF469):c.290C>T (p.Pro97Leu) AND not specified | 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
- rs273585617 dbSNP
- Genome
- hg38
- Position
- chr16:88,427,760-88,427,760
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser