chr6:64791763:C>G Detail (hg19) (EYS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:64,791,763-64,791,763 |
| hg38 | chr6:64,081,870-64,081,870 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001292009.1:c.6557G>C | NP_001278938.1:p.Gly2186Ala |
| NM_001142800.1:c.6557G>C | NP_001136272.1:p.Gly2186Ala | |
| Ensemble | ENST00000370621.7:c.6557G>C | ENST00000370621.7:p.Gly2186Ala |
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 |
|---|---|---|---|---|---|
|
Uncertain significance
|
2023-08-25 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.370 | retinitis pigmentosa | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001142800.2(EYS):c.6557G>C (p.Gly2186Ala) 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
- -
- Genome
- hg19
- Position
- chr6:64,791,763-64,791,763
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser