chr4:6302250:C>T Detail (hg38) (WFS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:6,303,977-6,303,977 View the variant detail on this assembly version. |
| hg38 | chr4:6,302,250-6,302,250 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001145853.1:c.2455C>T | NP_001139325.1:p.Gln819Ter |
| NM_006005.3:c.2455C>T | NP_005996.2:p.Gln819Ter | |
| Ensemble | ENST00000226760.5:c.2455C>T | ENST00000226760.5:p.Gln819Ter |
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
|
1998-12-01 | no assertion criteria provided | Wolfram syndrome 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.626 | Wolfram syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006005.3(WFS1):c.2455C>T (p.Gln819Ter) AND Wolfram 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
- rs104893881 dbSNP
- Genome
- hg38
- Position
- chr4:6,302,250-6,302,250
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser