STIM1 stromal interaction molecule 1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 1 | 34 |
| Likely pathogenic | 0 | 20 |
| Benign | 0 | 112 |
| Likely benign | 0 | 512 |
| Conflicting classifications of pathogenicity | 0 | 22 |
| not provided | 13 | 0 |
| Uncertain significance | 0 | 736 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
190 |
 |
1,186 |
 |
16 |
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 | D11S4896E |
| SYNONYM | GOK |
| SYNONYM | IMD10 |
| SYNONYM | STRMK |
| SYNONYM | TAM |
| SYNONYM | TAM1 |
| MIM | 605921 OMIM |
| HGNC | HGNC:11386 HGNC |
| Ensembl | ENSG00000167323 Ensembl |
| AllianceGenome | HGNC:11386 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000698911.1 | hg38 | chr11 | 3,855,193 | 4,093,186 | 237,994 |
| ENST00000616714.4 | hg38 | chr11 | 3,855,703 | 4,093,210 | 237,508 |
| ENST00000698912.1 | hg38 | chr11 | 3,855,193 | 4,093,188 | 237,996 |
| ENST00000698913.1 | hg38 | chr11 | 3,855,193 | 4,093,190 | 237,998 |
| ENST00000698914.1 | hg38 | chr11 | 3,855,700 | 4,076,098 | 220,399 |
| ENST00000698915.1 | hg38 | chr11 | 3,855,839 | 4,092,936 | 237,098 |
| ENST00000698910.1 | hg38 | chr11 | 3,854,661 | 4,093,191 | 238,531 |
| ENST00000698916.1 | hg38 | chr11 | 3,855,839 | 4,093,188 | 237,350 |
| ENST00000533977.5 | hg38 | chr11 | 4,058,749 | 4,092,126 | 33,378 |
| ENST00000526596.2 | hg38 | chr11 | 3,855,664 | 4,093,208 | 237,545 |
| ENST00000527651.5 | hg38 | chr11 | 3,856,182 | 4,091,798 | 235,617 |
| ENST00000525403.6 | hg38 | chr11 | 3,854,527 | 4,093,188 | 238,662 |
| ENST00000300737.8 | hg38 | chr11 | 3,855,702 | 4,093,209 | 237,508 |
| ENST00000525403.6 | hg19 | chr11 | 3,875,757 | 4,114,418 | 238,662 |
| ENST00000527651.5 | hg19 | chr11 | 3,877,412 | 4,113,028 | 235,617 |
| ENST00000526596.2 | hg19 | chr11 | 3,876,894 | 4,114,438 | 237,545 |
| ENST00000300737.8 | hg19 | chr11 | 3,876,932 | 4,114,439 | 237,508 |
| ENST00000533977.5 | hg19 | chr11 | 4,079,979 | 4,113,356 | 33,378 |
| ENST00000616714.4 | hg19 | chr11 | 3,876,933 | 4,114,440 | 237,508 |
| ENST00000698910.1 | hg19 | chr11 | 3,875,891 | 4,114,421 | 238,531 |
| ENST00000698911.1 | hg19 | chr11 | 3,876,423 | 4,114,416 | 237,994 |
| ENST00000698912.1 | hg19 | chr11 | 3,876,423 | 4,114,418 | 237,996 |
| ENST00000698913.1 | hg19 | chr11 | 3,876,423 | 4,114,420 | 237,998 |
| ENST00000698914.1 | hg19 | chr11 | 3,876,930 | 4,097,328 | 220,399 |
| ENST00000698915.1 | hg19 | chr11 | 3,877,069 | 4,114,166 | 237,098 |
| ENST00000698916.1 | hg19 | chr11 | 3,877,069 | 4,114,418 | 237,350 |
Genome browser