PIP5K1C phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
Information
- Symbol
- PIP5K1C
- Type
- protein-coding
- Description
- phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
- Entrez Gene ID
- 23396
- Genome
- hg19
- Position
- chr19:3,636,599-3,700,388
- Genome
- hg38
- Position
- chr19:3,636,601-3,700,390
- MIM
- 606102 OMIM
- HGNC
- HGNC:8996 HGNC
- Ensembl
- ENSG00000186111 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 8 |
Benign | 0 | 127 |
Likely benign | 0 | 120 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 96 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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36 |
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285 |
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6 |
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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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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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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 | LCCS3 |
SYNONYM | PIP5K-GAMMA |
SYNONYM | PIP5K1-gamma |
SYNONYM | PIP5Kgamma |
MIM | 606102 OMIM |
HGNC | HGNC:8996 HGNC |
Ensembl | ENSG00000186111 Ensembl |
AllianceGenome | HGNC:8996 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000589578.5 | hg38 | chr19 | 3,636,601 | 3,700,390 | 63,790 |
ENST00000335312.8 | hg38 | chr19 | 3,630,183 | 3,700,468 | 70,286 |
ENST00000679885.1 | hg38 | chr19 | 3,630,183 | 3,700,390 | 70,208 |
ENST00000539785.5 | hg38 | chr19 | 3,632,876 | 3,700,465 | 67,590 |
ENST00000537021.1 | hg38 | chr19 | 3,636,601 | 3,700,390 | 63,790 |
ENST00000679885.1 | hg19 | chr19 | 3,630,181 | 3,700,388 | 70,208 |
ENST00000335312.8 | hg19 | chr19 | 3,630,181 | 3,700,466 | 70,286 |
ENST00000539785.5 | hg19 | chr19 | 3,632,874 | 3,700,463 | 67,590 |
ENST00000537021.1 | hg19 | chr19 | 3,636,599 | 3,700,388 | 63,790 |
ENST00000589578.5 | hg19 | chr19 | 3,636,599 | 3,700,388 | 63,790 |
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