chr17:31219018:AG> Detail (hg38) (NF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:29,546,036-29,546,037 |
hg38 | chr17:31,219,018-31,219,019 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000267.3:c.1541_1542delAG | NP_000258.1:p.Gln514ArgfsTer43 |
NM_001042492.2:c.1541_1542delAG | NP_001035957.1:p.Gln514ArgfsTer43 | |
NM_001128147.2:c.1541_1542delAG | NP_001121619.1:p.Gln514ArgfsTer43 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-12-12 | criteria provided, multiple submitters, no conflicts | Neurofibromatosis, type 1 |
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Detail |
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2018-01-26 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-02-14 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2019-01-05 | criteria provided, single submitter | not specified |
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Detail |
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2021-10-11 | criteria provided, single submitter | neurofibromatosis-Noonan syndrome |
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Detail |
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2023-10-29 | 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 | |
0.120 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) AND Neurofibromatosis, type 1 | ClinVar | Detail |
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) AND not provided | ClinVar | Detail |
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) AND not specified | ClinVar | Detail |
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) AND Neurofibromatosis-Noonan syndrome | ClinVar | Detail |
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) AND Juvenile myelomonocytic leukemia | ClinVar | 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
- rs267606600 dbSNP
- Genome
- hg38
- Position
- chr17:31,219,018-31,219,019
- Variant Type
- snv
- Reference Allele
- AG
- Alternative Allele
- -
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