chr17:31249093:C>T Detail (hg38) (NF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:29,576,111-29,576,111 View the variant detail on this assembly version. |
hg38 | chr17:31,249,093-31,249,093 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000267.3:c.4084C>T | NP_000258.1:p.Arg1362Ter |
NM_001042492.2:c.4084C>T | NP_001035957.1:p.Arg1362Ter | |
Ensemble | ENST00000356175.7:c.4084C>T | ENST00000356175.7:p.Arg1362Ter |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
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
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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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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2024-01-05 | criteria provided, multiple submitters, no conflicts | Neurofibromatosis, type 1 |
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Detail |
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2023-07-05 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2015-09-30 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2022-01-19 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal,Neurofibromatosis, type 1,neurofibromatosis-Noonan syndrome,juvenile myelomonocytic leukemia |
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Detail |
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2022-01-19 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal,Neurofibromatosis, type 1,neurofibromatosis-Noonan syndrome,juvenile myelomonocytic leukemia |
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Detail |
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2022-01-19 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal,Neurofibromatosis, type 1,neurofibromatosis-Noonan syndrome,juvenile myelomonocytic leukemia |
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Detail |
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2022-01-19 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal,Neurofibromatosis, type 1,neurofibromatosis-Noonan syndrome,juvenile myelomonocytic leukemia |
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Detail |
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2022-01-19 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal,Neurofibromatosis, type 1,neurofibromatosis-Noonan syndrome,juvenile myelomonocytic leukemia |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.670 | neurofibromatosis 1 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) AND Neurofibromatosis, type 1 | ClinVar | Detail |
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) AND not provided | ClinVar | Detail |
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) AND multiple conditions | 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
- rs137854560 dbSNP
- Genome
- hg38
- Position
- chr17:31,249,093-31,249,093
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8644
- 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)
- 121394
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.237639422047218E-6
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