chr16:88427547:G>C Detail (hg38) (ZNF469)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:88,493,955-88,493,955 View the variant detail on this assembly version. |
| hg38 | chr16:88,427,547-88,427,547 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001127464.2:c.77G>C | NP_001120936.2:p.Ser26Thr |
| Ensemble | ENST00000437464.1:c.77G>C | ENST00000437464.1:p.Ser26Thr |
| ENST00000565624.3:c.77G>C | ENST00000565624.3:p.Ser26Thr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | 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 |
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.77G>C (p.Ser26Thr) AND Keratoconus 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
- rs273585616 dbSNP
- Genome
- hg38
- Position
- chr16:88,427,547-88,427,547
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser