LRCH1 leucine rich repeats and calponin homology domain containing 1
Information
- Symbol
- LRCH1
- Type
- protein-coding
- Description
- leucine rich repeats and calponin homology domain containing 1
- Entrez Gene ID
- 23143
- Genome
- hg19
- Position
- chr13:47,127,305-47,319,033
- Genome
- hg38
- Position
- chr13:46,553,170-46,744,898
- MIM
- 610368 OMIM
- HGNC
- HGNC:20309 HGNC
- Ensembl
- ENSG00000136141 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Uncertain significance | 0 | 96 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
100 |
 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| 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
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| Category | : |
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| 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 | CHDC1 |
| SYNONYM | NP81 |
| MIM | 610368 OMIM |
| HGNC | HGNC:20309 HGNC |
| Ensembl | ENSG00000136141 Ensembl |
| AllianceGenome | HGNC:20309 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000311191.10 | hg38 | chr13 | 46,553,168 | 46,753,040 | 199,873 |
| ENST00000389798.7 | hg38 | chr13 | 46,553,200 | 46,743,595 | 190,396 |
| ENST00000389797.8 | hg38 | chr13 | 46,553,170 | 46,744,898 | 191,729 |
| ENST00000311191.10 | hg19 | chr13 | 47,127,303 | 47,327,175 | 199,873 |
| ENST00000389797.8 | hg19 | chr13 | 47,127,305 | 47,319,033 | 191,729 |
| ENST00000389798.7 | hg19 | chr13 | 47,127,335 | 47,317,730 | 190,396 |
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