chr17:31232852:A>G Detail (hg38) (NF1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:29,559,870-29,559,870 View the variant detail on this assembly version. |
| hg38 | chr17:31,232,852-31,232,852 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000267.3:c.3467A>G | NP_000258.1:p.Asn1156Ser |
| NM_001042492.2:c.3467A>G | NP_001035957.1:p.Asn1156Ser | |
| Ensemble | ENST00000356175.7:c.3467A>G | ENST00000356175.7:p.Asn1156Ser |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| 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 | 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 |
|---|---|---|---|---|---|
Uncertain significance
|
2022-01-26 | criteria provided, single submitter | not provided |
germline
not provided
|
Detail |
Pathogenic
|
2022-09-02 | criteria provided, single submitter | Neurofibromatosis, type 1 |
germline
|
Detail |
|
Uncertain significance
|
2019-05-22 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Uncertain significance
|
2023-10-24 | criteria provided, single submitter | juvenile myelomonocytic leukemia |
unknown
|
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.3467A>G (p.Asn1156Ser) AND not provided | ClinVar | Detail |
| NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) AND Neurofibromatosis, type 1 | ClinVar | Detail |
| NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) AND not specified | ClinVar | Detail |
| NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) 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
- rs199474764 dbSNP
- Genome
- hg38
- Position
- chr17:31,232,852-31,232,852
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8608
- 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)
- 121268
- 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)
- 8.246198502490351E-6
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