ROM1 retinal outer segment membrane protein 1
Information
- Symbol
- ROM1
- Type
- protein-coding
- Description
- retinal outer segment membrane protein 1
- Entrez Gene ID
- 6094
- Genome
- hg19
- Position
- chr11:62,380,729-62,382,588
- Genome
- hg38
- Position
- chr11:62,613,257-62,615,116
- MIM
- 180721 OMIM
- HGNC
- HGNC:10254 HGNC
- Ensembl
- ENSG00000149489 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 1 | 0 |
| Benign | 0 | 26 |
| Likely benign | 0 | 180 |
| Conflicting classifications of pathogenicity | 0 | 24 |
| Uncertain significance | 0 | 446 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
90 |
 |
550 |
 |
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
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 | ROM |
| SYNONYM | ROSP1 |
| SYNONYM | RP7 |
| SYNONYM | TSPAN23 |
| MIM | 180721 OMIM |
| HGNC | HGNC:10254 HGNC |
| Ensembl | ENSG00000149489 Ensembl |
| AllianceGenome | HGNC:10254 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000534093.5 | hg38 | chr11 | 62,611,786 | 62,615,100 | 3,315 |
| ENST00000278833.4 | hg38 | chr11 | 62,613,257 | 62,615,116 | 1,860 |
| ENST00000534093.5 | hg19 | chr11 | 62,379,258 | 62,382,572 | 3,315 |
| ENST00000278833.4 | hg19 | chr11 | 62,380,729 | 62,382,588 | 1,860 |
Genome browser