LETMD1 LETM1 domain containing 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 6 |
| Uncertain significance | 0 | 48 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
54 |
 |
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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| 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 | 1110019O13Rik |
| SYNONYM | HCCR |
| SYNONYM | HCCR-1 |
| SYNONYM | HCCR-2 |
| SYNONYM | HCCR1 |
| SYNONYM | HCCR2 |
| SYNONYM | HCRR-2 |
| SYNONYM | SLC55A3 |
| MIM | 619070 OMIM |
| HGNC | HGNC:24241 HGNC |
| Ensembl | ENSG00000050426 Ensembl |
| AllianceGenome | HGNC:24241 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000262055.9 | hg38 | chr12 | 51,048,327 | 51,060,424 | 12,098 |
| ENST00000547008.5 | hg38 | chr12 | 51,048,341 | 51,060,369 | 12,029 |
| ENST00000550929.5 | hg38 | chr12 | 51,048,318 | 51,059,805 | 11,488 |
| ENST00000552739.5 | hg38 | chr12 | 51,048,346 | 51,060,401 | 12,056 |
| ENST00000418425.6 | hg38 | chr12 | 51,048,338 | 51,060,413 | 12,076 |
| ENST00000418425.6 | hg19 | chr12 | 51,442,121 | 51,454,196 | 12,076 |
| ENST00000547008.5 | hg19 | chr12 | 51,442,124 | 51,454,152 | 12,029 |
| ENST00000262055.9 | hg19 | chr12 | 51,442,110 | 51,454,207 | 12,098 |
| ENST00000550929.5 | hg19 | chr12 | 51,442,101 | 51,453,588 | 11,488 |
| ENST00000552739.5 | hg19 | chr12 | 51,442,129 | 51,454,184 | 12,056 |
| Key | Value |
|---|---|
| strand | + |
| UniProt | OG |
| start | 51,442,081 |
| Gene Symbol | LETMD1 |
| Entrez GeneId | 25,875 |
| Chr Band | 12q13.12 |
| end | 51,454,206 |
| chr | chr12 |
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