chr17:29556173:T>C Detail (hg19) (NF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:29,556,173-29,556,173 |
hg38 | chr17:31,229,155-31,229,155 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001042492.2:c.2540T>C | NP_001035957.1:p.Leu847Pro |
NM_000267.3:c.2540T>C | NP_000258.1:p.Leu847Pro | |
Ensemble | ENST00000358273.9:c.2540T>C | ENST00000358273.9:p.Leu847Pro |
Summary
MGeND
Clinical significance |
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Variant entry | 3 |
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
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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2018/01/13 | breast, unspecified |
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MGS000028
(TMGS000049) |
Yukihide Momozawa | RIKEN |
30287823
|
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2021/03/19 | control |
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MGS000047
(TMGS000111) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
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other |
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MGS000001
(TMGS000162) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-05-24 | criteria provided, single submitter | not provided |
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Detail |
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2024-01-30 | criteria provided, multiple submitters, no conflicts | Neurofibromatosis, type 1 |
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Detail |
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2015-04-16 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2016-09-29 | criteria provided, single submitter | not specified |
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Detail |
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2018-02-26 | no assertion criteria provided | Atypical coarctation of aorta |
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Detail |
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2021-06-15 | criteria provided, single submitter | Neurofibromatosis, familial spinal,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia |
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Detail |
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2021-06-15 | criteria provided, single submitter | Neurofibromatosis, familial spinal,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia |
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Detail |
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2021-06-15 | criteria provided, single submitter | Neurofibromatosis, familial spinal,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia |
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Detail |
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2021-06-15 | criteria provided, single submitter | Neurofibromatosis, familial spinal,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia |
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Detail |
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2021-06-15 | criteria provided, single submitter | Neurofibromatosis, familial spinal,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia |
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Detail |
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2020-10-21 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2021-07-01 | no assertion criteria provided | Gastric cancer |
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Detail |
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2021-05-21 | criteria provided, single submitter | juvenile myelomonocytic leukemia |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.670 | neurofibromatosis 1 | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screen... | UNIPROT | 10712197 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) AND not provided | ClinVar | Detail |
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) AND Neurofibromatosis, type 1 | ClinVar | Detail |
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) AND not specified | ClinVar | Detail |
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) AND Atypical coarctation of aorta | ClinVar | Detail |
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) AND Gastric cancer | ClinVar | Detail |
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) AND Juvenile myelomonocytic leukemia | ClinVar | Detail |
More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in ... | 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
- rs199474747 dbSNP
- Genome
- hg19
- Position
- chr17:29,556,173-29,556,173
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
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