LPXN leupaxin
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 6 |
Uncertain significance | 0 | 38 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
44 |
![]() |
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 | LDPL |
MIM | 605390 OMIM |
HGNC | HGNC:14061 HGNC |
Ensembl | ENSG00000110031 Ensembl |
AllianceGenome | HGNC:14061 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000528489.1 | hg38 | chr11 | 58,527,039 | 58,578,220 | 51,182 |
ENST00000528954.5 | hg38 | chr11 | 58,526,871 | 58,578,166 | 51,296 |
ENST00000395074.7 | hg38 | chr11 | 58,526,871 | 58,575,856 | 48,986 |
ENST00000395074.7 | hg19 | chr11 | 58,294,344 | 58,343,329 | 48,986 |
ENST00000528954.5 | hg19 | chr11 | 58,294,344 | 58,345,639 | 51,296 |
ENST00000528489.1 | hg19 | chr11 | 58,294,512 | 58,345,693 | 51,182 |
Genome browser