RNASEK ribonuclease K
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 24 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
24 |
![]() |
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 |
---|---|
MIM | 617098 OMIM |
HGNC | HGNC:33911 HGNC |
Ensembl | ENSG00000219200 Ensembl |
AllianceGenome | HGNC:33911 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000552039.2 | hg38 | chr17 | 7,012,632 | 7,014,532 | 1,901 |
ENST00000552842.1 | hg38 | chr17 | 7,012,646 | 7,014,530 | 1,885 |
ENST00000549393.2 | hg38 | chr17 | 7,012,648 | 7,014,519 | 1,872 |
ENST00000570898.1 | hg38 | chr17 | 7,012,622 | 7,014,330 | 1,709 |
ENST00000548577.5 | hg38 | chr17 | 7,012,417 | 7,014,532 | 2,116 |
ENST00000593646.6 | hg38 | chr17 | 7,012,624 | 7,014,532 | 1,909 |
ENST00000548577.1 | hg19 | chr17 | 6,915,736 | 6,917,851 | 2,116 |
ENST00000402093.1 | hg19 | chr17 | 6,915,798 | 6,917,850 | 2,053 |
ENST00000552321.1 | hg19 | chr17 | 6,916,550 | 6,917,839 | 1,290 |
Genome browser