MYO18A myosin XVIIIA
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 34 |
| Likely benign | 0 | 30 |
| not provided | 85 | 4 |
| Uncertain significance | 0 | 264 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
2 |
 |
318 |
 |
8 |
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
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| Target data | : |
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| 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 | |||||||||||
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MGeND data only
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| 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
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| 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 | MAJN |
| SYNONYM | MYSPDZ |
| SYNONYM | SP-R210 |
| SYNONYM | SPR210 |
| SYNONYM | TIAF1 |
| MIM | 609517 OMIM |
| MIM | 610067 OMIM |
| HGNC | HGNC:31104 HGNC |
| Ensembl | ENSG00000196535 Ensembl |
| AllianceGenome | HGNC:31104 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000531253.5 | hg38 | chr17 | 29,073,519 | 29,180,364 | 106,846 |
| ENST00000533112.5 | hg38 | chr17 | 29,073,519 | 29,176,752 | 103,234 |
| ENST00000527372.7 | hg38 | chr17 | 29,071,122 | 29,180,398 | 109,277 |
| ENST00000704659.1 | hg38 | chr17 | 29,073,537 | 29,180,380 | 106,844 |
| ENST00000527372.7 | hg19 | chr17 | 27,398,140 | 27,507,416 | 109,277 |
| ENST00000704659.1 | hg19 | chr17 | 27,400,555 | 27,507,398 | 106,844 |
| ENST00000531253.5 | hg19 | chr17 | 27,400,537 | 27,507,382 | 106,846 |
| ENST00000533112.5 | hg19 | chr17 | 27,400,537 | 27,503,770 | 103,234 |
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