chr1:156866908:A>C Detail (hg38) (NTRK1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:156,836,700-156,836,700 View the variant detail on this assembly version. |
hg38 | chr1:156,866,908-156,866,908 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001012331.1:c.360-2A>C | |
NM_001007792.1:c.198-2A>C | ||
NM_002529.3:c.360-2A>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-04-11 | criteria provided, multiple submitters, no conflicts | Hereditary insensitivity to pain with anhidrosis |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.450 | HSAN Type IV | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_002529.4(NTRK1):c.360-2A>C AND Hereditary insensitivity to pain with anhidrosis | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs797045059 dbSNP
- Genome
- hg38
- Position
- chr1:156,866,908-156,866,908
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser