chr17:29585419:C>T Detail (hg19) (NF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:29,585,419-29,585,419 |
hg38 | chr17:31,258,401-31,258,401 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000267.3:c.4168C>T | NP_000258.1:p.Leu1390Phe |
NM_001042492.2:c.4231C>T | NP_001035957.1:p.Leu1411Phe | |
Ensemble | ENST00000691014.1:c.4261C>T | ENST00000691014.1:p.Leu1421Phe |
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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2009-12-01 | no assertion criteria provided | neurofibromatosis-Noonan syndrome |
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Detail |
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2016-11-29 | criteria provided, single submitter | not provided |
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Detail |
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2023-03-26 | criteria provided, multiple submitters, no conflicts | Neurofibromatosis, type 1 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.670 | neurofibromatosis 1 | NA | CLINVAR | Detail | |
0.482 | neurofibromatosis-Noonan syndrome | NA | CLINVAR | Detail | |
0.482 | neurofibromatosis-Noonan syndrome | Features of NS have been observed in individuals with NF1 -a condition known as ... | UNIPROT | 19845691 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe) AND Neurofibromatosis-Noonan syndrome | ClinVar | Detail |
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe) AND not provided | ClinVar | Detail |
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe) AND Neurofibromatosis, type 1 | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Features of NS have been observed in individuals with NF1 -a condition known as neurofibromatosis-No... | 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
- rs199474789 dbSNP
- Genome
- hg19
- Position
- chr17:29,585,419-29,585,419
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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