PPP1R12C protein phosphatase 1 regulatory subunit 12C
Information
- Symbol
- PPP1R12C
- Type
- protein-coding
- Description
- protein phosphatase 1 regulatory subunit 12C
- Entrez Gene ID
- 54776
- Genome
- hg19
- Position
- chr19:55,602,286-55,629,005
- Genome
- hg38
- Position
- chr19:55,090,918-55,117,637
- MIM
- 613245 OMIM
- HGNC
- HGNC:14947 HGNC
- Ensembl
- ENSG00000125503 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 16 |
Uncertain significance | 0 | 94 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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116 |
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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 |
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | AAVS1 |
SYNONYM | LENG3 |
SYNONYM | MBS85 |
SYNONYM | p84 |
SYNONYM | p85 |
MIM | 613245 OMIM |
HGNC | HGNC:14947 HGNC |
Ensembl | ENSG00000125503 Ensembl |
AllianceGenome | HGNC:14947 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000435544.6 | hg38 | chr19 | 55,091,361 | 55,113,618 | 22,258 |
ENST00000263433.8 | hg38 | chr19 | 55,090,918 | 55,117,637 | 26,720 |
ENST00000263433.8 | hg19 | chr19 | 55,602,286 | 55,629,005 | 26,720 |
ENST00000435544.6 | hg19 | chr19 | 55,602,729 | 55,624,986 | 22,258 |
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