chr1:156838293:C>T Detail (hg19) (NTRK1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:156,838,293-156,838,293 |
| hg38 | chr1:156,868,501-156,868,501 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001007792.1:c.413-4C>T | |
| NM_001012331.1:c.575-4C>T | ||
| NM_002529.3:c.575-4C>T |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
malignant neoplasm of rectosigmoid junction |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2022-03-18 | criteria provided, single submitter | Hereditary insensitivity to pain with anhidrosis |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002529.4(NTRK1):c.575-4C>T AND Hereditary insensitivity to pain with anhidrosis | ClinVar | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg19
- Position
- chr1:156,838,293-156,838,293
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser