chr17:29587421:A>G Detail (hg19) (NF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:29,587,421-29,587,421 |
hg38 | chr17:31,260,403-31,260,403 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000267.3:c.4402A>G | NP_000258.1:p.Ser1468Gly |
NM_001042492.2:c.4465A>G | NP_001035957.1:p.Ser1489Gly | |
Ensemble | ENST00000356175.7:c.4402A>G | ENST00000356175.7:p.Ser1468Gly |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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malignant neoplasm of rectum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2020-09-08 | criteria provided, single submitter | not provided |
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Detail |
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2024-03-26 | criteria provided, multiple submitters, no conflicts | Neurofibromatosis, type 1 |
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Detail |
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2023-03-09 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.670 | neurofibromatosis 1 | Automated comparative sequence analysis identifies mutations in 89% of NF1 patie... | UNIPROT | 15060124 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly) AND not provided | ClinVar | Detail |
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly) AND Neurofibromatosis, type 1 | ClinVar | Detail |
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly) AND multiple conditions | ClinVar | Detail |
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a m... | 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
- rs199474743 dbSNP
- Genome
- hg19
- Position
- chr17:29,587,421-29,587,421
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser