chr17:31327718:C>T Detail (hg38) (NF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:29,654,736-29,654,736 View the variant detail on this assembly version. |
hg38 | chr17:31,327,718-31,327,718 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000267.3:c.5425C>T | NP_000258.1:p.Arg1809Cys |
NM_001042492.2:c.5488C>T | NP_001035957.1:p.Arg1830Cys | |
Ensemble | ENST00000356175.7:c.5425C>T | ENST00000356175.7:p.Arg1809Cys |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
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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2024-03-25 | criteria provided, conflicting interpretations | Neurofibromatosis, type 1 |
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Detail |
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2022-09-01 | criteria provided, conflicting interpretations | not provided |
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Detail |
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2019-04-01 | criteria provided, single submitter | not specified |
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Detail |
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2019-06-26 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,neurofibromatosis-Noonan syndrome,Neurofibromatosis, familial spinal |
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Detail |
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2019-06-26 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,neurofibromatosis-Noonan syndrome,Neurofibromatosis, familial spinal |
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Detail |
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2019-06-26 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,neurofibromatosis-Noonan syndrome,Neurofibromatosis, familial spinal |
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Detail |
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2019-06-26 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, type 1,neurofibromatosis-Noonan syndrome,Neurofibromatosis, familial spinal |
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Detail |
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2020-04-20 | criteria provided, single submitter | intellectual disability |
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Detail |
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2022-03-31 | criteria provided, multiple submitters, no conflicts | neurofibromatosis-Noonan syndrome |
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Detail |
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criteria provided, single submitter |
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Detail | ||
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2021-03-17 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2021-10-22 | criteria provided, multiple submitters, no conflicts | Neurofibromatosis, familial spinal,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis |
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Detail |
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2021-10-22 | criteria provided, multiple submitters, no conflicts | Neurofibromatosis, familial spinal,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis |
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Detail |
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2021-10-22 | criteria provided, multiple submitters, no conflicts | Neurofibromatosis, familial spinal,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis |
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Detail |
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2021-10-22 | criteria provided, multiple submitters, no conflicts | Neurofibromatosis, familial spinal,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis |
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Detail |
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2021-10-22 | criteria provided, multiple submitters, no conflicts | Neurofibromatosis, familial spinal,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,neurofibromatosis-Noonan syndrome,Café-au-lait macules with pulmonary stenosis |
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Detail |
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2022-07-20 | criteria provided, single submitter | juvenile myelomonocytic leukemia |
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Detail |
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2023-12-20 | 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 |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND Neurofibromatosis, type 1 | ClinVar | Detail |
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND not provided | ClinVar | Detail |
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND not specified | ClinVar | Detail |
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND Intellectual disability | ClinVar | Detail |
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND Neurofibromatosis-Noonan syndrome | ClinVar | Detail |
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND Neurodevelopmental delay | ClinVar | Detail |
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND Juvenile myelomonocytic leukemia | ClinVar | Detail |
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND NF1-related disorder | 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
- rs797045139 dbSNP
- Genome
- hg38
- Position
- chr17:31,327,718-31,327,718
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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