chr1:156843535:G>A Detail (hg19) (NTRK1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:156,843,535-156,843,535 |
hg38 | chr1:156,873,743-156,873,743 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_002529.3:c.961G>A | NP_002520.2:p.Val321Met |
NM_001012331.1:c.961G>A | NP_001012331.1:p.Val321Met | |
NM_001007792.1:c.799G>A | NP_001007793.1:p.Val267Met |
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 |
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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 |
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2023-06-01 | criteria provided, single submitter | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.362 | familial medullary thyroid carcinoma | The results confirmed the successful clinical utility of whole exome sequencing,... | BeFree | 21655256 | Detail |
0.522 | familial medullary thyroid carcinoma | The results confirmed the successful clinical utility of whole exome sequencing,... | BeFree | 21655256 | Detail |
0.003 | multiple endocrine neoplasia type 2A | We unexpectedly discovered that the proband's daughter with MEN 2A-related MTC p... | BeFree | 21655256 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_002529.4(NTRK1):c.961G>A (p.Val321Met) AND Hereditary insensitivity to pain with anhidrosis | ClinVar | Detail |
NM_002529.4(NTRK1):c.961G>A (p.Val321Met) AND not provided | ClinVar | Detail |
The results confirmed the successful clinical utility of whole exome sequencing, and our data sugges... | DisGeNET | Detail |
The results confirmed the successful clinical utility of whole exome sequencing, and our data sugges... | DisGeNET | Detail |
We unexpectedly discovered that the proband's daughter with MEN 2A-related MTC presented a novel p.C... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- Genome
- hg19
- Position
- chr1:156,843,535-156,843,535
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8216
- 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)
- 109150
- Allele Counts in All Race (ExAC)
- 4
- Heterozygous Counts in All Race (ExAC)
- 4
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 3.6646816307833254E-5
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