chr1:156846318:A>G Detail (hg19) (NTRK1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:156,846,318-156,846,318 |
hg38 | chr1:156,876,526-156,876,526 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001012331.1:c.1741A>G | NP_001012331.1:p.Met581Val |
NM_001007792.1:c.1579A>G | NP_001007793.1:p.Met527Val | |
NM_002529.3:c.1759A>G | NP_002520.2:p.Met587Val |
Summary
MGeND
Clinical significance |
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Variant entry | 2 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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other |
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MGS000001
(TMGS000154) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2019-05-16 | criteria provided, single submitter | 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.1759A>G (p.Met587Val) AND Hereditary insensitivity to pain with anhidrosis | 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
- rs121964870 dbSNP
- Genome
- hg19
- Position
- chr1:156,846,318-156,846,318
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser