chr17:29557401:G>A Detail (hg19) (NF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:29,557,401-29,557,401 |
hg38 | chr17:31,230,383-31,230,383 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000267.3:c.3113+1G>A | |
NM_001042492.2:c.3113+1G>A | ||
Ensemble | ENST00000696138.1:c.3158+1G>A |
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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2024-01-03 | criteria provided, multiple submitters, no conflicts | Neurofibromatosis, type 1 |
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Detail |
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2021-11-16 | criteria provided, single submitter | not provided |
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Detail |
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2018-11-10 | criteria provided, single submitter | Neurofibromatosis, type 1 |
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Detail |
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2022-03-18 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2021-09-10 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-01-12 | criteria provided, single submitter | NF1-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.670 | neurofibromatosis 1 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001042492.3(NF1):c.3113+1G>A AND Neurofibromatosis, type 1 | ClinVar | Detail |
NM_001042492.3(NF1):c.3113+1G>A AND not provided | ClinVar | Detail |
NM_001042492.3(NF1):c.3113+1G>A AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.3113+1G>A AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_001042492.3(NF1):c.3113+1G>A AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.3113+1G>A AND NF1-related disorder | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs267606599 dbSNP
- Genome
- hg19
- Position
- chr17:29,557,401-29,557,401
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser