chr5:90070121:G>T Detail (hg19) (ADGRV1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:90,070,121-90,070,121 |
| hg38 | chr5:90,774,304-90,774,304 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_032119.3:c.12403+1G>T | |
| NR_003149.1:c.12403+1G>T | ||
| Ensemble | ENST00000405460.9:c.12403+1G>T |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
Usher Syndrome |
germline
|
MGS000009
(TMGS000012) |
Shoji Tsuji | Tokyo University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
no assertion criteria provided | Usher syndrome type 2C |
not provided
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_032119.4(ADGRV1):c.12403+1G>T AND Usher syndrome type 2C | ClinVar | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs527236132 dbSNP
- Genome
- hg19
- Position
- chr5:90,070,121-90,070,121
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser