ABCC1 ATP binding cassette subfamily C member 1 (ABCC1 blood group)
Information
- Symbol
- ABCC1
- Type
- protein-coding
- Description
- ATP binding cassette subfamily C member 1 (ABCC1 blood group)
- Entrez Gene ID
- 4363
- Genome
- hg19
- Position
- chr16:16,043,473-16,236,910
- Genome
- hg38
- Position
- chr16:15,949,616-16,143,053
- MIM
- 158343 OMIM
- HGNC
- HGNC:51 HGNC
- Ensembl
- ENSG00000103222 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Benign | 0 | 36 |
| Likely benign | 0 | 60 |
| association | 0 | 6 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| drug response | 0 | 2 |
| not provided | 11 | 16 |
| Uncertain significance | 0 | 140 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
8 |
 |
206 |
 |
28 |
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 | : |
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| 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
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| 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 | ABC29 |
| SYNONYM | ABCC |
| SYNONYM | DFNA77 |
| SYNONYM | GS-X |
| SYNONYM | MRP |
| SYNONYM | MRP1 |
| MIM | 158343 OMIM |
| HGNC | HGNC:51 HGNC |
| Ensembl | ENSG00000103222 Ensembl |
| AllianceGenome | HGNC:51 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000399410.8 | hg38 | chr16 | 15,949,616 | 16,143,053 | 193,438 |
| ENST00000677164.1 | hg38 | chr16 | 15,949,577 | 16,143,257 | 193,681 |
| ENST00000399408.7 | hg38 | chr16 | 15,949,577 | 16,143,074 | 193,498 |
| ENST00000399408.7 | hg19 | chr16 | 16,043,434 | 16,236,931 | 193,498 |
| ENST00000677164.1 | hg19 | chr16 | 16,043,434 | 16,237,114 | 193,681 |
| ENST00000399410.8 | hg19 | chr16 | 16,043,473 | 16,236,910 | 193,438 |
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