chr8:24813612:C>T Detail (hg19) (NEFL)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:24,813,612-24,813,612 |
| hg38 | chr8:24,956,098-24,956,098 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006158.4:c.418G>A | NP_006149.2:p.Glu140Lys |
| Ensemble | ENST00000610854.2:c.418G>A | ENST00000610854.2:p.Glu140Lys |
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 |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2023-08-28 | criteria provided, single submitter | Charcot-Marie-Tooth disease type 2E |
germline
|
Detail |
|
Uncertain significance
|
2022-02-24 | criteria provided, single submitter | Charcot-Marie-Tooth disease, dominant intermediate G |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.480 | Charcot-Marie-Tooth disease, demyelinating, Type 1F | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006158.5(NEFL):c.418G>A (p.Glu140Lys) AND Charcot-Marie-Tooth disease type 2E | ClinVar | Detail |
| NM_006158.5(NEFL):c.418G>A (p.Glu140Lys) AND Charcot-Marie-Tooth disease, dominant intermediate G | 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
- rs121913663 dbSNP
- Genome
- hg19
- Position
- chr8:24,813,612-24,813,612
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 6972
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 94122
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.1249017232952976E-5
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