KANK2 KN motif and ankyrin repeat domains 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Benign | 0 | 122 |
Likely benign | 0 | 296 |
Conflicting classifications of pathogenicity | 0 | 6 |
Uncertain significance | 0 | 342 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
116 |
![]() |
620 |
![]() |
4 |
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 | ANKRD25 |
SYNONYM | MXRA3 |
SYNONYM | NPHS16 |
SYNONYM | PPKWH |
SYNONYM | SIP |
MIM | 614610 OMIM |
HGNC | HGNC:29300 HGNC |
Ensembl | ENSG00000197256 Ensembl |
AllianceGenome | HGNC:29300 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000586659.6 | hg38 | chr19 | 11,164,270 | 11,197,545 | 33,276 |
ENST00000589359.5 | hg38 | chr19 | 11,166,558 | 11,197,547 | 30,990 |
ENST00000589894.1 | hg38 | chr19 | 11,169,676 | 11,194,511 | 24,836 |
ENST00000586659.6 | hg19 | chr19 | 11,274,946 | 11,308,221 | 33,276 |
ENST00000589359.5 | hg19 | chr19 | 11,277,234 | 11,308,223 | 30,990 |
ENST00000589894.1 | hg19 | chr19 | 11,280,352 | 11,305,187 | 24,836 |
Genome browser