chr8:24811218:G>T Detail (hg19) (NEFL)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:24,811,218-24,811,218 |
| hg38 | chr8:24,953,704-24,953,704 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006158.4:c.1261C>A | NP_006149.2:p.Arg421= |
| Ensemble | ENST00000610854.2:c.1261C>A | ENST00000610854.2:p.Arg421= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2024-01-15 | criteria provided, single submitter | Charcot-Marie-Tooth disease type 2E |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.481 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006158.5(NEFL):c.1261C>A (p.Arg421=) AND Charcot-Marie-Tooth disease type 2E | 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
- rs191346286 dbSNP
- Genome
- hg19
- Position
- chr8:24,811,218-24,811,218
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8626
- East Asian Allele Counts (ExAC)
- 6
- East Asian Heterozygous Counts (ExAC)
- 6
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 6.955715279387897E-4
- Chromosome Counts in All Race (ExAC)
- 120576
- Allele Counts in All Race (ExAC)
- 6
- Heterozygous Counts in All Race (ExAC)
- 6
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.976114649681529E-5
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