pfkfb4[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 11

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Number of Variants: 11

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv6315166	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 44,948,482-49,115,809 , GRCh38.p12 chr3: 44,906,990-49,078,376	PFKFB4, TMEM89, 129 more genes
nsv5673729	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 48,507,870-50,340,407 , GRCh38.p12 chr3: 48,466,471-50,302,976	PFKFB4, SEMA3B-AS1, 87 more genes
nsv4674083	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 48,346,677-49,630,228 , GRCh38.p12 chr3: 48,305,187-49,592,795	PFKFB4, MIR6823, 59 more genes
nsv3885606	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 60,174-197,948,027 , GRCh38.p12 chr3: 18,496-198,221,156	PFKFB4, RNU4-62P, 2880 more genes
nsv3889228	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr3: 61,892-197,851,986 , GRCh38.p12 chr3: 20,214-198,125,115	PFKFB4, NDUFB4, 2876 more genes
nsv3880617	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 61,495-197,838,262 , GRCh38.p12 chr3: 19,817-198,111,391	PFKFB4, RPL23AP49, 2875 more genes
nsv4347762	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 45,153,770-53,878,616 , GRCh38.p12 chr3: 45,112,278-53,844,589	PFKFB4, UQCRC1, 291 more genes
nsv3921797	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr3: 45,896,379-50,762,357 , GRCh38 chr3: 45,879,883-50,749,922 , GRCh37 chr3: 45,921,375-50,787,353	PFKFB4, RBM5-AS1, 185 more genes
nsv3883164	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr3: 37,028,313-49,929,220 , GRCh38.p12 chr3: 36,986,822-49,891,787	PFKFB4, ACAA1, 344 more genes
nsv3879581	copy number variation	1	nstd102	human	Benign	GRCh37 chr3: 48,505,831-48,641,197 , GRCh38.p12 chr3: 48,464,432-48,603,764	PFKFB4, SNORA94, 9 more genes
nsv7096805	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr3: 45,435,946-49,137,751 , GRCh38.p12 chr3: 45,394,454-49,100,318	PFKFB4, SNORA94, 120 more genes

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pfkfb4[All Fields] AND 1[has_clinical] (12)
dbVar
MMP20 matrix metallopeptidase 20 [Homo sapiens]
MMP20 matrix metallopeptidase 20 [Homo sapiens]
Gene ID:9313

Gene
inositol-trisphosphate 3-kinase A [Homo sapiens]
inositol-trisphosphate 3-kinase A [Homo sapiens]
gi|4504789|ref|NP_002211.1|

Protein
desmin isoform 1 [Homo sapiens]
desmin isoform 1 [Homo sapiens]
gi|55749932|ref|NP_001918.3|

Protein

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