chr17:31233092:T>G Detail (hg38) (NF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:29,560,110-29,560,110 View the variant detail on this assembly version. |
hg38 | chr17:31,233,092-31,233,092 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000267.3:c.3587T>G | NP_000258.1:p.Leu1196Arg |
NM_001042492.2:c.3587T>G | NP_001035957.1:p.Leu1196Arg | |
Ensemble | ENST00000356175.7:c.3587T>G | ENST00000356175.7:p.Leu1196Arg |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
![]() ![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2023-09-07 | criteria provided, single submitter | not provided |
![]() ![]() |
Detail |
![]() |
2019-07-09 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
![]() |
Detail |
![]() |
2023-06-06 | criteria provided, single submitter | Neurofibromatosis, type 1 |
![]() |
Detail |
![]() |
2023-03-01 | criteria provided, single submitter | NF1-related disorder |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.670 | neurofibromatosis 1 | Automated comparative sequence analysis identifies mutations in 89% of NF1 patie... | UNIPROT | 15060124 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg) AND not provided | ClinVar | Detail |
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg) AND Neurofibromatosis, type 1 | ClinVar | Detail |
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg) AND NF1-related disorder | ClinVar | Detail |
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a m... | 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
- rs199474741 dbSNP
- Genome
- hg38
- Position
- chr17:31,233,092-31,233,092
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
Genome browser