chr17:31334927:C>T Detail (hg38) (NF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:29,661,945-29,661,945 View the variant detail on this assembly version. |
hg38 | chr17:31,334,927-31,334,927 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000267.3:c.5839C>T | NP_000258.1:p.Arg1947Ter |
NM_001042492.2:c.5902C>T | NP_001035957.1:p.Arg1968Ter | |
Ensemble | ENST00000691014.1:c.5932C>T | ENST00000691014.1:p.Arg1978Ter |
Summary
MGeND
Clinical significance |
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Variant entry | 5 |
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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colorectal neoplasms, hereditary nonpolyposis |
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MGS000043
(TMGS000096) |
Kohei Miyazono | Tokyo University | ||||
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other |
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MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University | ||||
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other |
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MGS000073
(TMGS000145) |
Kenjiro Kosaki |
Keio University IRUD |
||||
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other |
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MGS000073
(TMGS000155) |
Kenjiro Kosaki |
Keio University IRUD |
||||
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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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2024-03-29 | criteria provided, multiple submitters, no conflicts | Neurofibromatosis, type 1 |
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Detail |
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2022-05-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2014-11-04 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2018-10-31 | criteria provided, single submitter | Neurofibromatosis, familial spinal,Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia |
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Detail |
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2018-10-31 | criteria provided, single submitter | Neurofibromatosis, familial spinal,Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia |
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Detail |
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2018-10-31 | criteria provided, single submitter | Neurofibromatosis, familial spinal,Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia |
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Detail |
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2018-10-31 | criteria provided, single submitter | Neurofibromatosis, familial spinal,Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia |
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Detail |
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2018-10-31 | criteria provided, single submitter | Neurofibromatosis, familial spinal,Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia |
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Detail |
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2018-11-10 | criteria provided, single submitter | Neurofibromatosis, type 1 |
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Detail |
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2021-09-03 | criteria provided, single submitter | juvenile myelomonocytic leukemia |
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Detail |
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2022-09-28 | criteria provided, single submitter | NF1-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.670 | neurofibromatosis 1 | NA | CLINVAR | Detail | |
<0.001 | Neurofibromatosis type 5 | Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmenta... | BeFree | 16117786 | Detail |
0.670 | neurofibromatosis 1 | Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmenta... | BeFree | 16117786 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND Neurofibromatosis, type 1 | ClinVar | Detail |
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND not provided | ClinVar | Detail |
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND Juvenile myelomonocytic leukemia | ClinVar | Detail |
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) AND NF1-related disorder | ClinVar | Detail |
NA | DisGeNET | Detail |
Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis ... | DisGeNET | Detail |
Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis ... | 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
- rs137854552 dbSNP
- Genome
- hg38
- Position
- chr17:31,334,927-31,334,927
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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