chr16:88503797:A>G Detail (hg19) (ZNF469)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:88,503,797-88,503,797 |
| hg38 | chr16:88,437,389-88,437,389 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001127464.2:c.9835A>G | NP_001120936.2:p.Thr3279Ala |
| Ensemble | ENST00000437464.1:c.9835A>G | ENST00000437464.1:p.Thr3279Ala |
| ENST00000565624.3:c.9919A>G | ENST00000565624.3:p.Thr3307Ala |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
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 |
|---|---|---|---|---|---|
Likely pathogenic
|
no assertion criteria provided | Keratoconus 1 |
germline
|
Detail | |
Uncertain significance
|
2022-10-13 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
Likely benign
|
2019-05-10 | criteria provided, single submitter |
germline
|
Detail | |
|
Uncertain significance
|
2022-05-04 | criteria provided, single submitter | brittle cornea syndrome 1 |
unknown
|
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.9919A>G (p.Thr3307Ala) AND Keratoconus 1 | ClinVar | Detail |
| NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala) AND not provided | ClinVar | Detail |
| NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala) AND Brittle cornea syndrome 1 | 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
- rs273585627 dbSNP
- Genome
- hg19
- Position
- chr16:88,503,797-88,503,797
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser