chr17:29528062:T>C Detail (hg19) (NF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:29,528,062-29,528,062 |
hg38 | chr17:31,201,044-31,201,044 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001042492.2:c.1070T>C | NP_001035957.1:p.Leu357Pro |
NM_001128147.2:c.1070T>C | NP_001121619.1:p.Leu357Pro | |
NM_000267.3:c.1070T>C | NP_000258.1:p.Leu357Pro |
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 |
---|---|---|---|---|---|
![]() |
2023-06-06 | criteria provided, multiple submitters, no conflicts | Neurofibromatosis, type 1 |
![]() |
Detail |
![]() |
2000-03-01 | no assertion criteria provided | Neurofibromatosis, familial spinal |
![]() |
Detail |
![]() |
2021-07-23 | criteria provided, single submitter | not provided |
![]() |
Detail |
![]() |
2022-01-04 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal |
![]() |
Detail |
![]() |
2022-01-04 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal |
![]() |
Detail |
![]() |
2022-01-04 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal |
![]() |
Detail |
![]() |
2022-01-04 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal |
![]() |
Detail |
![]() |
2022-01-04 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.670 | neurofibromatosis 1 | NA | CLINVAR | Detail | |
0.670 | neurofibromatosis 1 | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screen... | UNIPROT | 10712197 | Detail |
0.361 | Neurofibromatosis, familial spinal | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) AND Neurofibromatosis, type 1 | ClinVar | Detail |
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) AND Neurofibromatosis, familial spinal | ClinVar | Detail |
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) AND not provided | ClinVar | Detail |
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) AND multiple conditions | ClinVar | Detail |
NA | DisGeNET | Detail |
More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in ... | DisGeNET | Detail |
NA | 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
- rs137854563 dbSNP
- Genome
- hg19
- Position
- chr17:29,528,062-29,528,062
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser