chr17:29556972:AAT> Detail (hg19) (NF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:29,556,972-29,556,974 |
hg38 | chr17:31,229,954-31,229,956 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000267.3:c.2970_2972delAAT | NP_000258.1:p.Met992del |
NM_001042492.2:c.2970_2972delAAT | NP_001035957.1:p.Met992del | |
Ensemble | ENST00000356175.7:c.2970_2972delAAT | ENST00000356175.7:p.Met992del |
Summary
MGeND
Clinical significance |
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Variant entry | 2 |
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 |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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2021/03/19 | Colorectal |
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MGS000050
(TMGS000114) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
|||
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2020/04/20 | bronchus or lung, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2007-01-01 | no assertion criteria provided | neurofibromatosis-Noonan syndrome |
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Detail |
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2007-01-01 | no assertion criteria provided | Café-au-lait macules with pulmonary stenosis |
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Detail |
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2023-11-24 | criteria provided, multiple submitters, no conflicts | Neurofibromatosis, type 1 |
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Detail |
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2015-01-19 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2022-11-23 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2021-09-28 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,juvenile myelomonocytic leukemia,Neurofibromatosis, type 1,Neurofibromatosis, familial spinal |
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Detail |
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2021-09-28 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,juvenile myelomonocytic leukemia,Neurofibromatosis, type 1,Neurofibromatosis, familial spinal |
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Detail |
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2021-09-28 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,juvenile myelomonocytic leukemia,Neurofibromatosis, type 1,Neurofibromatosis, familial spinal |
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Detail |
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2021-09-28 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,juvenile myelomonocytic leukemia,Neurofibromatosis, type 1,Neurofibromatosis, familial spinal |
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Detail |
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2021-09-28 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,juvenile myelomonocytic leukemia,Neurofibromatosis, type 1,Neurofibromatosis, familial spinal |
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Detail |
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2021-07-01 | no assertion criteria provided | Gastric cancer |
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Detail |
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2021-09-26 | criteria provided, single submitter | juvenile myelomonocytic leukemia |
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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 | |
0.361 | Cafe-au-lait macules with pulmonary stenosis | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND Neurofibromatosis-Noonan syndrome | ClinVar | Detail |
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND Café-au-lait macules with pulmonary stenosis | ClinVar | Detail |
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND Neurofibromatosis, type 1 | ClinVar | Detail |
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND not provided | ClinVar | Detail |
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND Gastric cancer | ClinVar | Detail |
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND Juvenile myelomonocytic leukemia | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | 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
- rs267606606 dbSNP
- Genome
- hg19
- Position
- chr17:29,556,972-29,556,974
- Variant Type
- snv
- Reference Allele
- AAT
- Alternative Allele
- -
- East Asian Chromosome Counts (ExAC)
- 8652
- 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)
- 120410
- 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)
- 8.304958059961797E-6
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