rps6kb1[All Fields] AND 1[has_clinical] - dbVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 19

loading data ...

Number of Variants: 19

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv4676312	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 57,931,020-57,986,918 , GRCh38.p12 chr17: 59,853,659-59,909,557	RPS6KB1, TUBD1, 1 more genes
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	RPS6KB1, PRPSAP1, 1350 more genes
nsv3895056	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 56,623,275-60,285,107 , GRCh38.p12 chr17: 58,545,914-62,207,746	RPS6KB1, MIR454, 87 more genes
nsv6291649	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 57,605,300-59,389,547 , GRCh38.p12 chr17: 59,527,939-61,312,186	RPS6KB1, RNU4-13P, 48 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	RPS6KB1, 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	RPS6KB1, 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	RPS6KB1, 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	RPS6KB1, 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	RPS6KB1, 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	RPS6KB1, 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	RPS6KB1, 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	RPS6KB1, 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	RPS6KB1, NDUFB8P2, 161 more genes
nsv4457799	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 57,869,604-67,078,443 , GRCh38.p12 chr17: 59,792,243-69,082,302	RPS6KB1, PECAM1, 215 more genes
nsv4349383	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 57,357,088-66,306,668 , GRCh38.p12 chr17: 59,279,727-68,310,527	RPS6KB1, FAM136DP, 214 more genes
nsv3895703	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 56,321,134-62,080,001 , GRCh38.p12 chr17: 58,243,773-64,002,641	RPS6KB1, GH2, 161 more genes
nsv4676229	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr17: 57,616,400-57,986,918 , GRCh38.p12 chr17: 59,539,039-59,909,557	RPS6KB1, CLTC, 8 more genes
nsv3896572	copy number variation	1	nstd102	human	Benign	GRCh37 chr17: 57,582,867-58,080,569 , GRCh38.p12 chr17: 59,505,506-60,003,208	RPS6KB1, CLTC, 16 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	RPS6KB1, RNF43, 132 more genes

Supplemental Content

Filters: Manage Filters

Find related data

Search details

Recent activity

Clear Turn Off Turn On

rps6kb1[All Fields] AND 1[has_clinical] (20)
dbVar
RecName: Full=Signal-regulatory protein beta-1; Short=SIRP-beta-1; AltName: Full...
RecName: Full=Signal-regulatory protein beta-1; Short=SIRP-beta-1; AltName: Full=CD172 antigen-like family member B; AltName: CD_antigen=CD172b; Flags: Precursor
gi|311033545|sp|O00241.5|SIRB1_HUMA

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

You are here: NCBI > Variation > Database of Genomic Structural Variation (dbVar)