chr17:31200543:A>T Detail (hg38) (NF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:29,527,561-29,527,561 View the variant detail on this assembly version. |
hg38 | chr17:31,200,543-31,200,543 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000267.3:c.1010A>T | NP_000258.1:p.Glu337Val |
NM_001042492.2:c.1010A>T | NP_001035957.1:p.Glu337Val | |
NM_001128147.2:c.1010A>T | NP_001121619.1:p.Glu337Val |
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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no assertion provided | not provided |
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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.1010A>T (p.Glu337Val) AND not provided | 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
- rs199474736 dbSNP
- Genome
- hg38
- Position
- chr17:31,200,543-31,200,543
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
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