MYO15A myosin XVA
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 49 | 670 |
Likely pathogenic | 0 | 330 |
Benign | 0 | 267 |
Likely benign | 0 | 2,992 |
Conflicting classifications of pathogenicity | 0 | 588 |
no classification for the single variant | 0 | 2 |
not provided | 2 | 0 |
Uncertain significance | 0 | 1,346 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
28 |
![]() |
706 |
![]() |
4,605 |
![]() |
136 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 | DFNB3 |
SYNONYM | MYO15 |
MIM | 602666 OMIM |
HGNC | HGNC:7594 HGNC |
Ensembl | ENSG00000091536 Ensembl |
AllianceGenome | HGNC:7594 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000644795.1 | hg38 | chr17 | 18,153,723 | 18,179,741 | 26,019 |
ENST00000647165.2 | hg38 | chr17 | 18,108,756 | 18,179,800 | 71,045 |
ENST00000418233.7 | hg38 | chr17 | 18,153,395 | 18,179,222 | 25,828 |
ENST00000647165.2 | hg19 | chr17 | 18,012,070 | 18,083,114 | 71,045 |
ENST00000418233.7 | hg19 | chr17 | 18,056,709 | 18,082,536 | 25,828 |
ENST00000644795.1 | hg19 | chr17 | 18,057,037 | 18,083,055 | 26,019 |
Genome browser