chr17:29562648:T>C Detail (hg19) (NF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:29,562,648-29,562,648 |
hg38 | chr17:31,235,630-31,235,630 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000267.3:c.3728T>C | NP_000258.1:p.Leu1243Pro |
NM_001042492.2:c.3728T>C | NP_001035957.1:p.Leu1243Pro | |
Ensemble | ENST00000356175.7:c.3728T>C | ENST00000356175.7:p.Leu1243Pro |
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
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.670 | neurofibromatosis 1 | NA | CLINVAR | Detail | |
0.670 | neurofibromatosis 1 | Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). | UNIPROT | 15520408 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001042492.3(NF1):c.3728T>C (p.Leu1243Pro) AND Neurofibromatosis, type 1 | ClinVar | Detail |
NM_001042492.3(NF1):c.3728T>C (p.Leu1243Pro) AND not provided | ClinVar | Detail |
NA | DisGeNET | Detail |
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). | 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
- rs137854564 dbSNP
- Genome
- hg19
- Position
- chr17:29,562,648-29,562,648
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
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