chr17:31223532:T>G Detail (hg38) (NF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:29,550,550-29,550,550 View the variant detail on this assembly version. |
hg38 | chr17:31,223,532-31,223,532 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000267.3:c.1810T>G | NP_000258.1:p.Leu604Val |
NM_001042492.2:c.1810T>G | NP_001035957.1:p.Leu604Val | |
Ensemble | ENST00000356175.7:c.1810T>G | ENST00000356175.7:p.Leu604Val |
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 | These children exhibited a constitutional genetic instability associated with cl... | UNIPROT | 12522551 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001042492.3(NF1):c.1810T>G (p.Leu604Val) AND not provided | ClinVar | Detail |
These children exhibited a constitutional genetic instability associated with clinical features of d... | 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
- rs142712751 dbSNP
- Genome
- hg38
- Position
- chr17:31,223,532-31,223,532
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
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