chr17:31265317:A>G Detail (hg38) (NF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:29,592,335-29,592,335 View the variant detail on this assembly version. |
hg38 | chr17:31,265,317-31,265,317 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000267.3:c.4750A>G | NP_000258.1:p.Ile1584Val |
NM_001042492.2:c.4813A>G | NP_001035957.1:p.Ile1605Val | |
Ensemble | ENST00000356175.7:c.4750A>G | ENST00000356175.7:p.Ile1584Val |
Summary
MGeND
Clinical significance | |
Variant entry | |
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2021-03-03 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2022-03-10 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-11-05 | criteria provided, multiple submitters, no conflicts | Neurofibromatosis, type 1 |
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Detail |
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no assertion criteria provided | not specified |
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Detail | |
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2023-10-16 | 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.4813A>G (p.Ile1605Val) AND not provided | ClinVar | Detail |
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) AND Neurofibromatosis, type 1 | ClinVar | Detail |
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) AND not specified | ClinVar | Detail |
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) 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 |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs199474766 dbSNP
- Genome
- hg38
- Position
- chr17:31,265,317-31,265,317
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
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