LRFN1 leucine rich repeat and fibronectin type III domain containing 1
Information
- Symbol
- LRFN1
- Type
- protein-coding
- Description
- leucine rich repeat and fibronectin type III domain containing 1
- Entrez Gene ID
- 57622
- Genome
- hg19
- Position
- chr19:39,797,206-39,811,503
- Genome
- hg38
- Position
- chr19:39,306,566-39,320,863
- MIM
- 612807 OMIM
- HGNC
- HGNC:29290 HGNC
- Ensembl
- ENSG00000128011 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 0 | 2 |
| Uncertain significance | 0 | 60 |
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
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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| 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 | SALM2 |
| MIM | 612807 OMIM |
| HGNC | HGNC:29290 HGNC |
| Ensembl | ENSG00000128011 Ensembl |
| AllianceGenome | HGNC:29290 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000248668.5 | hg38 | chr19 | 39,306,566 | 39,320,863 | 14,298 |
| ENST00000248668.5 | hg19 | chr19 | 39,797,206 | 39,811,503 | 14,298 |
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