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Gene: LOC129388446 (MPRA-validated peak64 silencer) Homo sapiens

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Symbol:

LOC129388446

Name:

MPRA-validated peak64 silencer

RGD ID:

329341968

Description:

This genomic region was identified as an uncharacterized cis-regulatory element (CRE) that lacked a promoter, enhancer or CTCF-bound insulator chromatin signature. It was validated as a silencer that could repress activity of a super core promoter (SCP1) by STARR-seq massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells. [provided by RefSeq, Apr 2023]

Type:

biological-region

RefSeq Status:

REVIEWED

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	10,232,298 - 10,232,498 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	1	10,292,356 - 10,292,556 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
T2T-CHM13v2.0	1	9,775,896 - 9,776,096 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
LOC129388446	Human	Charcot-Marie-Tooth disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	ClinVar	PMID:25741868 and PMID:28492532
LOC129388446	Human	Charcot-Marie-Tooth disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	ClinVar	PMID:25741868 more ...
LOC129388446	Human	Charcot-Marie-Tooth disease type 2		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868 and PMID:28492532
LOC129388446	Human	Charcot-Marie-Tooth disease type 2		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
LOC129388446	Human	Charcot-Marie-Tooth disease type 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2	ClinVar	PMID:18334619 and PMID:28492532
LOC129388446	Human	Charcot-Marie-Tooth disease type 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2	ClinVar	PMID:25741868 more ...
LOC129388446	Human	Charcot-Marie-Tooth disease type 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth and Type 2	ClinVar	PMID:25741868 more ...
LOC129388446	Human	Hereditary Neoplastic Syndromes		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	ClinVar	PMID:25741868 and PMID:28492532
LOC129388446	Human	neuroblastoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: KIF1B-related condition	ClinVar
LOC129388446	Human	neuroblastoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: KIF1B-related condition	ClinVar	PMID:28492532
LOC129388446	Human	neuroblastoma		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: KIF1B-related condition	ClinVar	PMID:25741868 and PMID:28492532
LOC129388446	Human	neuroblastoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: KIF1B-related condition	ClinVar	PMID:25741868 more ...
LOC129388446	Human	neuroblastoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: KIF1B-related condition	ClinVar	PMID:25741868
LOC129388446	Human	pheochromocytoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pheochromocytoma	ClinVar	PMID:18334619 and PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
LOC129388446	Human	Pheochromocytoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pheochromocytoma	ClinVar	PMID:18334619 and PMID:28492532

PMID:32103011

Variants in LOC129388446
53 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001365951.3(KIF1B):c.106+5G>A	single nucleotide variant	not specified [RCV004939170]	Chr1:10232439 [GRCh38] Chr1:10292497 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.10G>T (p.Ala4Ser)	single nucleotide variant	not specified [RCV004939117]	Chr1:10232338 [GRCh38] Chr1:10292396 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.-26TA[5]	microsatellite	not provided [RCV001655545]	Chr1:10232302..10232303 [GRCh38] Chr1:10292360..10292361 [GRCh37] Chr1:1p36.22	benign
NM_001365951.3(KIF1B):c.61A>G (p.Ser21Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001363157]\|not specified [RCV004036866]	Chr1:10232389 [GRCh38] Chr1:10292447 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.62G>A (p.Ser21Asn)	single nucleotide variant	not specified [RCV004053805]	Chr1:10232390 [GRCh38] Chr1:10292448 [GRCh37] Chr1:1p36.22	likely benign
NM_001365951.3(KIF1B):c.63C>T (p.Ser21=)	single nucleotide variant	not specified [RCV004053938]	Chr1:10232391 [GRCh38] Chr1:10292449 [GRCh37] Chr1:1p36.22	likely benign
NM_001365951.3(KIF1B):c.59C>T (p.Thr20Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001218795]\|not provided [RCV004691389]\|not specified [RCV004032339]	Chr1:10232387 [GRCh38] Chr1:10292445 [GRCh37] Chr1:1p36.22	likely benign\|uncertain significance
NM_001365951.3(KIF1B):c.93A>G (p.Gln31=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002118431]\|not specified [RCV004046528]	Chr1:10232421 [GRCh38] Chr1:10292479 [GRCh37] Chr1:1p36.22	likely benign
GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	copy number loss	See cases [RCV000133779]	Chr1:9064492..12666744 [GRCh38] Chr1:9124551..12726755 [GRCh37] Chr1:9047138..12649342 [NCBI36] Chr1:1p36.23-36.21	pathogenic
NM_001365951.3(KIF1B):c.101C>T (p.Ser34Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005095152]\|Pheochromocytoma [RCV001789835]\|not specified [RCV004040842]	Chr1:10232429 [GRCh38] Chr1:10292487 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.20A>T (p.Lys7Met)	single nucleotide variant	not provided [RCV001699645]\|not specified [RCV004039948]	Chr1:10232348 [GRCh38] Chr1:10292406 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.86A>G (p.Gln29Arg)	single nucleotide variant	not specified [RCV004056644]	Chr1:10232414 [GRCh38] Chr1:10292472 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.-5T>C	single nucleotide variant	KIF1B-related disorder [RCV003977794]\|not provided [RCV000293006]\|not specified [RCV004021231]	Chr1:10232324 [GRCh38] Chr1:10292382 [GRCh37] Chr1:1p36.22	likely benign\|uncertain significance
NM_001365951.3(KIF1B):c.6G>A (p.Ser2=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003098446]\|not specified [RCV004055129]	Chr1:10232334 [GRCh38] Chr1:10292392 [GRCh37] Chr1:1p36.22	likely benign
NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000857069]\|Charcot-Marie-Tooth disease type 2 [RCV003768638]\|not specified [RCV004029281]	Chr1:10232393 [GRCh38] Chr1:10292451 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.71C>G (p.Ser24Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005058494]\|not specified [RCV004055748]	Chr1:10232399 [GRCh38] Chr1:10292457 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.87G>T (p.Gln29His)	single nucleotide variant	not specified [RCV004056725]	Chr1:10232415 [GRCh38] Chr1:10292473 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.5C>T (p.Ser2Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001992445]\|KIF1B-related disorder [RCV003401944]\|not specified [RCV004043697]	Chr1:10232333 [GRCh38] Chr1:10292391 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.36A>G (p.Val12=)	single nucleotide variant	not specified [RCV004049700]	Chr1:10232364 [GRCh38] Chr1:10292422 [GRCh37] Chr1:1p36.22	likely benign
NM_001365951.3(KIF1B):c.48T>C (p.Asn16=)	single nucleotide variant	not specified [RCV004050191]	Chr1:10232376 [GRCh38] Chr1:10292434 [GRCh37] Chr1:1p36.22	likely benign
NM_001365951.3(KIF1B):c.78C>T (p.Cys26=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172596]\|Charcot-Marie-Tooth disease type 2 [RCV000863209]\|KIF1B-related disorder [RCV003965665]\|not provided [RCV003424386]\|not specified [RCV004029332]	Chr1:10232406 [GRCh38] Chr1:10292464 [GRCh37] Chr1:1p36.22	likely benign
NM_001365951.3(KIF1B):c.81C>T (p.Ile27=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002140740]\|not specified [RCV004046630]	Chr1:10232409 [GRCh38] Chr1:10292467 [GRCh37] Chr1:1p36.22	likely benign
NM_001365951.3(KIF1B):c.87G>C (p.Gln29His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001886003]\|not specified [RCV004927738]	Chr1:10232415 [GRCh38] Chr1:10292473 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.88A>T (p.Met30Leu)	single nucleotide variant	not specified [RCV004054847]	Chr1:10232416 [GRCh38] Chr1:10292474 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.60C>G (p.Thr20=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001413447]\|not specified [RCV004027772]	Chr1:10232388 [GRCh38] Chr1:10292446 [GRCh37] Chr1:1p36.22	likely benign
GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	copy number loss	See cases [RCV000135807]	Chr1:8283694..12470133 [GRCh38] Chr1:8343754..12530188 [GRCh37] Chr1:8266341..12452775 [NCBI36] Chr1:1p36.23-36.22	pathogenic
NM_001365951.3(KIF1B):c.8G>T (p.Gly3Val)	single nucleotide variant	not specified [RCV004054919]	Chr1:10232336 [GRCh38] Chr1:10292394 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.18G>A (p.Val6=)	single nucleotide variant	not specified [RCV004060765]	Chr1:10232346 [GRCh38] Chr1:10292404 [GRCh37] Chr1:1p36.22	likely benign
NM_001365951.3(KIF1B):c.91C>G (p.Gln31Glu)	single nucleotide variant	not specified [RCV004055075]	Chr1:10232419 [GRCh38] Chr1:10292477 [GRCh37] Chr1:1p36.22	uncertain significance
GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	copy number gain	See cases [RCV000051794]	Chr1:6652339..12724844 [GRCh38] Chr1:6712399..12784811 [GRCh37] Chr1:6634986..12707398 [NCBI36] Chr1:1p36.31-36.21	pathogenic
NM_001365951.3(KIF1B):c.84T>G (p.Ile28Met)	single nucleotide variant	not specified [RCV004056204]	Chr1:10232412 [GRCh38] Chr1:10292470 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.-1A>C	single nucleotide variant	not specified [RCV004059453]	Chr1:10232328 [GRCh38] Chr1:10292386 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.72C>T (p.Ser24=)	single nucleotide variant	not specified [RCV004055868]	Chr1:10232400 [GRCh38] Chr1:10292458 [GRCh37] Chr1:1p36.22	likely benign
NM_001365951.3(KIF1B):c.102G>A (p.Ser34=)	single nucleotide variant	not specified [RCV004058832]	Chr1:10232430 [GRCh38] Chr1:10292488 [GRCh37] Chr1:1p36.22	likely benign
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	copy number loss	See cases [RCV000136695]	Chr1:844347..12470133 [GRCh38] Chr1:779727..12530188 [GRCh37] Chr1:769590..12452775 [NCBI36] Chr1:1p36.33-36.22	pathogenic\|likely pathogenic
NM_001365951.3(KIF1B):c.60C>A (p.Thr20=)	single nucleotide variant	not specified [RCV004332251]	Chr1:10232388 [GRCh38] Chr1:10292446 [GRCh37] Chr1:1p36.22	likely benign
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	copy number gain	See cases [RCV000142906]	Chr1:6554885..16056011 [GRCh38] Chr1:6614945..16382506 [GRCh37] Chr1:6537532..16255093 [NCBI36] Chr1:1p36.31-36.13	pathogenic
NM_001365951.3(KIF1B):c.82A>C (p.Ile28Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001057127]	Chr1:10232410 [GRCh38] Chr1:10292468 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.98A>G (p.Asn33Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003058619]\|not specified [RCV004935298]	Chr1:10232426 [GRCh38] Chr1:10292484 [GRCh37] Chr1:1p36.22	uncertain significance
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	copy number loss	See cases [RCV000137461]	Chr1:4898439..12911913 [GRCh38] Chr1:4958499..12971757 [GRCh37] Chr1:4858359..12894344 [NCBI36] Chr1:1p36.32-36.21	pathogenic
NM_001365951.3(KIF1B):c.62G>T (p.Ser21Ile)	single nucleotide variant	not provided [RCV001816043]	Chr1:10232390 [GRCh38] Chr1:10292448 [GRCh37] Chr1:1p36.22	uncertain significance
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	copy number loss	See cases [RCV000137948]	Chr1:6303641..15799093 [GRCh38] Chr1:6363701..16125588 [GRCh37] Chr1:6286288..15998175 [NCBI36] Chr1:1p36.31-36.21	pathogenic\|likely benign
GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	copy number loss	See cases [RCV000140873]	Chr1:9428538..15815791 [GRCh38] Chr1:9488597..16142286 [GRCh37] Chr1:9411184..16014873 [NCBI36] Chr1:1p36.22-36.21	pathogenic
NM_001365951.3(KIF1B):c.85C>G (p.Gln29Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000200683]\|KIF1B-related disorder [RCV003407709]\|not provided [RCV001311621]\|not specified [RCV004020475]	Chr1:10232413 [GRCh38] Chr1:10292471 [GRCh37] Chr1:1p36.22	likely pathogenic\|likely benign\|uncertain significance
GRCh38/hg38 1p36.22(chr1:9378480-10317912)x3	copy number gain	See cases [RCV000141821]	Chr1:9378480..10317912 [GRCh38] Chr1:9438539..10377970 [GRCh37] Chr1:9361126..10300557 [NCBI36] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.69A>G (p.Glu23=)	single nucleotide variant	KIF1B-related disorder [RCV003936718]\|not specified [RCV004244721]	Chr1:10232397 [GRCh38] Chr1:10292455 [GRCh37] Chr1:1p36.22	likely benign
NM_001365951.3(KIF1B):c.42C>T (p.Pro14=)	single nucleotide variant	not specified [RCV004244727]	Chr1:10232370 [GRCh38] Chr1:10292428 [GRCh37] Chr1:1p36.22	likely benign
GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	copy number loss	See cases [RCV000053755]	Chr1:7165036..13111056 [GRCh38] Chr1:7225096..13178528 [GRCh37] Chr1:7147683..13101115 [NCBI36] Chr1:1p36.23-36.21	pathogenic
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	copy number loss	See cases [RCV000053756]	Chr1:9034671..16441465 [GRCh38] Chr1:9094730..16767960 [GRCh37] Chr1:9017317..16640547 [NCBI36] Chr1:1p36.23-36.13	pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	copy number loss	See cases [RCV000142771]	Chr1:5363826..18360302 [GRCh38] Chr1:5423886..18686796 [GRCh37] Chr1:5323746..18559383 [NCBI36] Chr1:1p36.31-36.13	pathogenic
NM_001365951.3(KIF1B):c.-26TA[7]	microsatellite	Charcot-Marie-Tooth disease type 2 [RCV000331235]\|Neuroblastoma [RCV000276962]\|Pheochromocytoma [RCV000385711]	Chr1:10232301..10232302 [GRCh38] Chr1:10292359..10292360 [GRCh37] Chr1:1p36.22	likely benign
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	copy number loss	See cases [RCV000053714]	Chr1:3006193..17688934 [GRCh38] Chr1:2922757..18015429 [GRCh37] Chr1:2912617..17888016 [NCBI36] Chr1:1p36.32-36.13	pathogenic
NM_001365951.3(KIF1B):c.106+10T>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001463460]\|KIF1B-related disorder [RCV003900597]	Chr1:10232444 [GRCh38] Chr1:10292502 [GRCh37] Chr1:1p36.22	likely benign
NM_001365951.3(KIF1B):c.105C>T (p.Thr35=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005101010]\|not specified [RCV004247521]	Chr1:10232433 [GRCh38] Chr1:10292491 [GRCh37] Chr1:1p36.22	likely benign\|uncertain significance
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	copy number loss	See cases [RCV000053724]	Chr1:4898439..13111056 [GRCh38] Chr1:4958499..13178528 [GRCh37] Chr1:4858359..13101115 [NCBI36] Chr1:1p36.32-36.21	pathogenic
NM_001365951.3(KIF1B):c.47A>G (p.Asn16Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001345339]\|not specified [RCV004036455]	Chr1:10232375 [GRCh38] Chr1:10292433 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.34G>T (p.Val12Leu)	single nucleotide variant	not specified [RCV004048672]	Chr1:10232362 [GRCh38] Chr1:10292420 [GRCh37] Chr1:1p36.22	uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	copy number gain	Trisomy 12p [RCV003447845]	Chr1:99125..34026935 [GRCh38] Chr1:1p36.33-35.1	pathogenic
NM_001365951.3(KIF1B):c.23T>C (p.Val8Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581497]	Chr1:10232351 [GRCh38] Chr1:10292409 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.49T>C (p.Ser17Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743061]	Chr1:10232377 [GRCh38] Chr1:10292435 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.39G>A (p.Arg13=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744181]\|not specified [RCV004935346]	Chr1:10232367 [GRCh38] Chr1:10292425 [GRCh37] Chr1:1p36.22	likely benign
NM_001365951.3(KIF1B):c.106+19C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581314]	Chr1:10232453 [GRCh38] Chr1:10292511 [GRCh37] Chr1:1p36.22	likely benign
NM_001365951.3(KIF1B):c.102G>C (p.Ser34=)	single nucleotide variant	not specified [RCV004519570]	Chr1:10232430 [GRCh38] Chr1:10292488 [GRCh37] Chr1:1p36.22	likely benign
NM_001365951.3(KIF1B):c.31C>A (p.Arg11=)	single nucleotide variant	not specified [RCV004519675]	Chr1:10232359 [GRCh38] Chr1:10292417 [GRCh37] Chr1:1p36.22	likely benign
NM_001365951.3(KIF1B):c.46A>T (p.Asn16Tyr)	single nucleotide variant	not specified [RCV004519736]	Chr1:10232374 [GRCh38] Chr1:10292432 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.74A>G (p.Lys25Arg)	single nucleotide variant	not specified [RCV004519777]	Chr1:10232402 [GRCh38] Chr1:10292460 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.53G>A (p.Arg18Gln)	single nucleotide variant	not specified [RCV004519764]	Chr1:10232381 [GRCh38] Chr1:10292439 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.59C>A (p.Thr20Asn)	single nucleotide variant	not specified [RCV004631286]	Chr1:10232387 [GRCh38] Chr1:10292445 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.85C>T (p.Gln29Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005179913]	Chr1:10232413 [GRCh38] Chr1:10292471 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.103A>G (p.Thr35Ala)	single nucleotide variant	not specified [RCV004244773]	Chr1:10232431 [GRCh38] Chr1:10292489 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001365951.3(KIF1B):c.79A>G (p.Ile27Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745571]\|not specified [RCV004326222]	Chr1:10232407 [GRCh38] Chr1:10292465 [GRCh37] Chr1:1p36.22	uncertain significance
NC_000001.11:g.10115497_16283149dup	duplication	not specified [RCV002286386]	Chr1:10115497..16283149 [GRCh38] Chr1:1p36.22-36.13	likely pathogenic

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1298451	OSTEAR17_H	Osteoarthritis QTL 17 (human)	2.4	0.0004	Joint/bone inflammation	osteoarthritis	11	1	25188105	Human
1576329	MYI9_H	Myocardial infarction susceptibility QTL 9 (human)	12		Myocardial infarction susceptibility	early-onset	1	7585503	33585503	Human
1298463	BP9_H	Blood pressure QTL 9 (human)	3.9		Blood pressure	hypertension susceptibility	1	1	25188105	Human
1576325	MYI1_H	Myocardial infarction susceptibility QTL 1 (human)	11.68	1e-12	Myocardial infarction susceptibility	early-onset	1	7585503	33585503	Human
1643380	BW316_H	Body weight QTL 316 (human)	2.62	0.0002	Body weight	BMI	1	7585503	33585503	Human

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.


RefSeq Transcripts	NG_154080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AL358013	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Database	Acc Id	Source(s)
COSMIC	LOC129388446	COSMIC
GTEx	LOC129388446	GTEx
Human Proteome Map	LOC129388446	Human Proteome Map
NCBI Gene	LOC129388446	ENTREZGENE

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar