KIR3DL1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
Information
- Symbol
- KIR3DL1
- Type
- protein-coding
- Description
- killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
- Entrez Gene ID
- 3811
- Genome
- hg19
- Position
- chr19:55,327,923-55,342,233
- Genome
- hg38
- Position
- chr19:54,816,468-54,830,778
- MIM
- 604946 OMIM
- HGNC
- HGNC:6338 HGNC
- Ensembl
- ENSG00000167633 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 16 |
| Uncertain significance | 0 | 74 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
86 |
 |
4 |
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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| 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 | CD158E1 |
| SYNONYM | KIR |
| SYNONYM | KIR2DL5B |
| SYNONYM | KIR3DL1/S1 |
| SYNONYM | NKAT-3 |
| SYNONYM | NKAT3 |
| SYNONYM | NKB1 |
| SYNONYM | NKB1B |
| MIM | 604946 OMIM |
| HGNC | HGNC:6338 HGNC |
| Ensembl | ENSG00000167633 Ensembl |
| AllianceGenome | HGNC:6338 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000391728.8 | hg38 | chr19 | 54,816,468 | 54,830,778 | 14,311 |
| ENST00000326542.11 | hg38 | chr19 | 54,816,487 | 54,830,777 | 14,291 |
| ENST00000358178.4 | hg38 | chr19 | 54,816,490 | 54,830,778 | 14,289 |
| ENST00000391728.8 | hg19 | chr19 | 55,327,923 | 55,342,233 | 14,311 |
| ENST00000326542.11 | hg19 | chr19 | 55,327,942 | 55,342,232 | 14,291 |
| ENST00000358178.4 | hg19 | chr19 | 55,327,945 | 55,342,233 | 14,289 |
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