srsf1[All Fields] AND 1[has_clinical] - dbVar

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Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3911811	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 31,824,931-78,654,742 , GRCh37.p13 chr17: 34,750,818-81,048,189 , GRCh38.p12 chr17: 36,382,248-83,103,577	SRSF1, PRPSAP1, 1350 more genes
nsv3914957	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 55,496,167-57,812,825 , GRCh38 chr17: 57,418,806-59,735,464 , NCBI36 chr17: 52,851,166-55,167,607	SRSF1, CLTC, 67 more genes
nsv6634423	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 55,043,662-56,728,123 , GRCh38.p12 chr17: 56,966,301-58,650,762	SRSF1, RNU7-134P, 42 more genes
nsv3920623	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 54,760,866-56,162,300 , NCBI36 chr17: 52,115,865-53,517,299 , GRCh38 chr17: 56,683,505-58,084,939	SRSF1, C17orf67, 28 more genes
nsv3917224	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 56,958,745-58,171,125 , NCBI36 chr17: 52,391,105-53,603,485 , GRCh37 chr17: 55,036,106-56,248,486	SRSF1, MRPS23, 24 more genes
nsv7098791	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 55,442,363-56,309,063 , GRCh38.p12 chr17: 57,365,002-58,231,702	SRSF1, MKS1, 21 more genes
nsv7098766	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 55,806,534-56,540,597 , GRCh38.p12 chr17: 57,729,173-58,463,236	SRSF1, LOC105371840, 24 more genes
nsv3903684	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 8,547-81,060,040 , GRCh38.p12 chr17: 158,756-83,102,004	SRSF1, MIR3185, 2366 more genes
nsv3899740	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 7,214-81,058,310 , GRCh38.p12 chr17: 157,423-83,100,564	SRSF1, P4HB, 2366 more genes
nsv3906245	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 12,344-81,057,996 , GRCh38.p12 chr17: 162,553-83,100,251	SRSF1, MIR21, 2366 more genes
nsv3907261	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr17: 526-81,041,938 , GRCh38.p12 chr17: 150,733-83,084,062	SRSF1, SMURF2, 2366 more genes
nsv3914783	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 16,698,288-78,654,742 , GRCh37.p13 chr17: 16,757,563-81,048,189 , GRCh38.p12 chr17: 16,854,249-83,103,577	SRSF1, LOC105371922, 1855 more genes
nsv3909511	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 42,580,684-81,085,615 , GRCh38.p12 chr17: 44,503,316-83,137,846	SRSF1, FOXK2, 958 more genes
nsv3913552	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 36,449,220-75,053,130 , NCBI36 chr17: 54,950,518-70,560,820 , GRCh37 chr17: 57,595,736-73,049,225	SRSF1, RNU6-131P, 1075 more genes
nsv3911563	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 45,918,236-63,677,950 , GRCh37 chr17: 48,563,237-65,936,105 , GRCh38 chr17: 36,449,220-68,170,214	SRSF1, PLEKHH3, 958 more genes
nsv3890268	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 49,076,980-58,740,945 , GRCh38.p12 chr17: 50,999,619-60,663,584	SRSF1, NDUFB8P2, 161 more genes
nsv3892374	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 52,189,051-57,477,162 , GRCh38.p12 chr17: 54,111,690-59,399,801	SRSF1, RN7SKP14, 93 more genes
nsv3906711	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr17: 55,916,829-56,770,618 , GRCh38.p12 chr17: 57,839,468-58,693,257	SRSF1, LPO, 34 more genes
nsv6290301	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 55,840,956-56,090,386 , GRCh38.p12 chr17: 57,763,595-58,013,025	SRSF1, CUEDC1, 5 more genes
nsv6310393	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 54,671,585-59,938,900 , GRCh38.p12 chr17: 56,594,224-61,861,539	SRSF1, RNF43, 132 more genes

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Items: 20

Number of Variants: 20

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