chr19:6362485:T>C Detail (hg19) (CLPP)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:6,362,485-6,362,485 |
| hg38 | chr19:6,362,474-6,362,474 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006012.2:c.299T>C | NP_006003.1:p.Ile100Thr |
| Ensemble | ENST00000245816.11:c.299T>C | ENST00000245816.11:p.Ile100Thr |
| ENST00000596149.5:c.38T>C | ENST00000596149.5:p.Ile13Thr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
criteria provided, single submitter | Perrault syndrome 3 |
inherited
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006012.4(CLPP):c.299T>C (p.Ile100Thr) AND Perrault syndrome 3 | ClinVar | 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
- rs2145048931 dbSNP
- Genome
- hg19
- Position
- chr19:6,362,485-6,362,485
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser