KLHDC9 kelch domain containing 9
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 4 |
Uncertain significance | 0 | 58 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
62 |
![]() |
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 | KARCA1 |
MIM | 617375 OMIM |
HGNC | HGNC:28489 HGNC |
Ensembl | ENSG00000162755 Ensembl |
AllianceGenome | HGNC:28489 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000368011.9 | hg38 | chr1 | 161,098,361 | 161,100,346 | 1,986 |
ENST00000392192.6 | hg38 | chr1 | 161,098,394 | 161,100,346 | 1,953 |
ENST00000368011.9 | hg19 | chr1 | 161,068,151 | 161,070,136 | 1,986 |
ENST00000392192.6 | hg19 | chr1 | 161,068,184 | 161,070,136 | 1,953 |
Key | Value |
---|---|
strand | + |
start | 161,068,150 |
Gene Symbol | KLHDC9 |
Entrez GeneId | 126,823 |
Chr Band | 1q23.3 |
end | 161,070,137 |
chr | chr1 |
Genome browser