NLRP8 NLR family pyrin domain containing 8
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 14 |
not provided | 0 | 26 |
Uncertain significance | 0 | 110 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
2 |
![]() |
124 |
![]() |
0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | CLR19.2 |
SYNONYM | NALP8 |
SYNONYM | NOD16 |
SYNONYM | PAN4 |
MIM | 609659 OMIM |
HGNC | HGNC:22940 HGNC |
Ensembl | ENSG00000179709 Ensembl |
AllianceGenome | HGNC:22940 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000291971.7 | hg38 | chr19 | 55,947,832 | 55,988,629 | 40,798 |
ENST00000590542.1 | hg38 | chr19 | 55,947,903 | 55,987,913 | 40,011 |
ENST00000291971.7 | hg19 | chr19 | 56,459,198 | 56,499,995 | 40,798 |
ENST00000590542.1 | hg19 | chr19 | 56,459,269 | 56,499,279 | 40,011 |
Genome browser