chr4:6303423:A>C Detail (hg19) (WFS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:6,303,423-6,303,423 |
| hg38 | chr4:6,301,696-6,301,696 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001145853.1:c.1901A>C | NP_001139325.1:p.Lys634Thr |
| NM_006005.3:c.1901A>C | NP_005996.2:p.Lys634Thr | |
| Ensemble | ENST00000226760.5:c.1901A>C | ENST00000226760.5:p.Lys634Thr |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2015/07/06 | other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2002-01-01 | no assertion criteria provided | Autosomal dominant nonsyndromic hearing loss 6 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | DEAFNESS, AUTOSOMAL DOMINANT 6 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006005.3(WFS1):c.1901A>C (p.Lys634Thr) AND Autosomal dominant nonsyndromic hearing loss 6 | 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
- rs104893882 dbSNP
- Genome
- hg19
- Position
- chr4:6,303,423-6,303,423
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser