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Results for "Al-Mubarak2017"

Variant Events: 47

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
GLT8D1     Al-Mubarak2017:ASD-18chr3:
52729434-52729438		TACTCTexonicUnknownframeshift deletionNM_018446
NM_152932
NM_001010983
NM_001278280
NM_001278281		c.811_812del
c.811_812del
c.811_812del
c.811_812del
c.811_812del		p.E271fs
p.E271fs
p.E271fs
p.E271fs
p.E271fs		--Al-Mubarak2017 E
DNAJC13     Al-Mubarak2017:ASD-18chr3:
132235581-132235581		AGexonicUnknownnonsynonymous SNVNM_015268c.A5594Gp.N1865S20.4-Al-Mubarak2017 E
NLRP2     Al-Mubarak2017:ASD-17chr19:
55493589-55493589		TCexonicUnknownnonsynonymous SNVNM_001174082
NM_001174081
NM_017852
NM_001174083		c.T457C
c.T523C
c.T523C
c.T454C		p.W153R
p.W175R
p.W175R
p.W152R		5.1798.239E-6Al-Mubarak2017 E
ACE2     Al-Mubarak2017:ASD-17chrX:
15596274-15596274		GTexonicUnknownnonsynonymous SNVNM_021804c.C1235Ap.A412E18.07-Al-Mubarak2017 E
ATP2B3     Al-Mubarak2017:ASD-18chrX:
152815599-152815599		CGexonicUnknownnonsynonymous SNVNM_001001344
NM_021949		c.C1678G
c.C1678G		p.P560A
p.P560A		2.7471.144E-5Al-Mubarak2017 E
MXRA5     Al-Mubarak2017:ASD-19chrX:
3261847-3261847		GAexonicUnknownnonsynonymous SNVNM_015419c.C28Tp.L10F14.89-Al-Mubarak2017 E
OR6C65     Al-Mubarak2017:ASD-18chr12:
55795077-55795078		TATexonicUnknownframeshift deletionNM_001005518c.766delAp.M256fs-1.648E-5Al-Mubarak2017 E
HSPBP1     Al-Mubarak2017:ASD-18chr19:
55774040-55774040		TGexonicUnknownnonsynonymous SNVNM_001297600
NM_012267
NM_001130106		c.A1154C
c.A1016C
c.A1016C		p.E385A
p.E339A
p.E339A		14.92-Al-Mubarak2017 E
NT5DC1     Al-Mubarak2017:ASD-21chr6:
116560148-116560148		TCexonicUnknownnonsynonymous SNVNM_152729c.T1114Cp.S372P21.1-Al-Mubarak2017 E
TRIM9     Al-Mubarak2017:ASD-21chr14:
51464728-51464728		CTexonicUnknownnonsynonymous SNVNM_052978c.G1643Ap.R548H15.741.06E-5Al-Mubarak2017 E
ITIH6     Al-Mubarak2017:ASD-19chrX:
54785354-54785354		TCexonicUnknownnonsynonymous SNVNM_198510c.A1153Gp.S385G6.255-Al-Mubarak2017 E
KDM5B     Al-Mubarak2017:ASD-19chr1:
202715044-202715044		GTexonicUnknownstopgainNM_006618
NM_001314042		c.C2265A
c.C2373A		p.Y755X
p.Y791X		41.03.295E-5Al-Mubarak2017 E
MOGS     Al-Mubarak2017:ASD-24chr2:
74690083-74690085		TTTTexonicUnknownframeshift deletionNM_006302
NM_001146158		c.831_832del
c.513_514del		p.V277fs
p.V171fs		--Al-Mubarak2017 E
IDS     Al-Mubarak2017:ASD-37chrX:
148579821-148579821		ATexonicUnknownnonsynonymous SNVNM_000202
NM_001166550
NM_006123		c.T525A
c.T255A
c.T525A		p.D175E
p.D85E
p.D175E		11.62-Al-Mubarak2017 E
GPKOW     Al-Mubarak2017:ASD-24chrX:
48976142-48976142		GAexonicUnknownnonsynonymous SNVNM_015698c.C482Tp.A161V6.6461.368E-5Al-Mubarak2017 E
HTATSF1     Al-Mubarak2017:ASD-24chrX:
135591309-135591309		TGexonicUnknownnonsynonymous SNVNM_014500
NM_001163280		c.T894G
c.T894G		p.F298L
p.F298L		19.4-Al-Mubarak2017 E
PLP1     Al-Mubarak2017:ASD-38chrX:
103041530-103041530		GAexonicUnknownnonsynonymous SNVNM_000533
NM_001305004
NM_199478
NM_001128834		c.G328A
c.G163A
c.G328A
c.G328A		p.G110S
p.G55S
p.G110S
p.G110S		22.2-Al-Mubarak2017 E
NEB     Al-Mubarak2017:ASD-39chr2:
152518680-152518680		AGexonicUnknownnonsynonymous SNVNM_001164507
NM_001164508
NM_001271208
NM_004543		c.T5939C
c.T5939C
c.T5939C
c.T5939C		p.L1980S
p.L1980S
p.L1980S
p.L1980S		22.33.0E-4Al-Mubarak2017 E
ASB9     Al-Mubarak2017:ASD-38chrX:
15270499-15270499		TGexonicUnknownnonsynonymous SNVNM_001031739
NM_001168530
NM_024087
NM_001168531		c.A310C
c.A310C
c.A310C
c.A310C		p.T104P
p.T104P
p.T104P
p.T104P		19.25-Al-Mubarak2017 E
PDK3     Al-Mubarak2017:ASD-38chrX:
24513003-24513003		AGintronicUnknown--Al-Mubarak2017 E
NGF     Al-Mubarak2017:ASD-43chr1:
115829056-115829056		GAexonicUnknownnonsynonymous SNVNM_002506c.C361Tp.R121W16.33-Al-Mubarak2017 E
SUMF1     Al-Mubarak2017:ASD-43chr3:
4458867-4458867		TCexonicUnknownnonsynonymous SNVNM_001164674
NM_001164675
NM_182760		c.A710G
c.A785G
c.A785G		p.Q237R
p.Q262R
p.Q262R		22.2-Al-Mubarak2017 E
BOC     Al-Mubarak2017:ASD-40chr3:
112997026-112997026		GAexonicUnknownnonsynonymous SNVNM_001301861
NM_033254		c.G1627A
c.G1624A		p.G543R
p.G542R		29.98.237E-6Al-Mubarak2017 E
SSTR3     Al-Mubarak2017:ASD-40chr22:
37603119-37603119		CGexonicUnknownnonsynonymous SNVNM_001051
NM_001278687		c.G724C
c.G724C		p.A242P
p.A242P		24.13.0E-4Al-Mubarak2017 E
PRODH2     Al-Mubarak2017:ASD-58chr19:
36303149-36303149		CGexonicUnknownnonsynonymous SNVNM_021232c.G625Cp.G209R4.3218.276E-6Al-Mubarak2017 E
USP9X     Al-Mubarak2017:ASD-64chrX:
41047363-41047363		AGexonicUnknownnonsynonymous SNVNM_001039590
NM_001039591		c.A3803G
c.A3803G		p.Y1268C
p.Y1268C		14.0-Al-Mubarak2017 E
MAOB     Al-Mubarak2017:ASD-58chrX:
43661503-43661503		CAexonicUnknownnonsynonymous SNVNM_000898c.G392Tp.S131I12.11-Al-Mubarak2017 E
ZNF630     Al-Mubarak2017:ASD-58chrX:
47920263-47920263		TAexonicUnknownnonsynonymous SNVNM_001037735
NM_001190255
NM_001282201		c.A77T
c.A35T
c.A77T		p.N26I
p.N12I
p.N26I		10.22-Al-Mubarak2017 E
SEMG2     Al-Mubarak2017:ASD-66chr20:
43850773-43850773		GAexonicUnknownstopgainNM_003008c.G500Ap.W167X10.048.241E-6Al-Mubarak2017 E
CELSR2     Al-Mubarak2017:ASD-69chr1:
109815496-109815496		GCexonicUnknownnonsynonymous SNVNM_001408c.G8185Cp.D2729H19.1-Al-Mubarak2017 E
RPS6KA6     Al-Mubarak2017:ASD-64chrX:
83359586-83359586		TCexonicUnknownnonsynonymous SNVNM_014496c.A1535Gp.Q512R15.58-Al-Mubarak2017 E
INTS6L     Al-Mubarak2017:ASD-64chrX:
134706756-134706756		ATexonicUnknownnonsynonymous SNVNM_182540c.A1304Tp.E435V17.49-Al-Mubarak2017 E
ARSH     Al-Mubarak2017:ASD-69chrX:
2945441-2945441		TCexonicUnknownnonsynonymous SNVNM_001011719c.T1124Cp.I375T9.579-Al-Mubarak2017 E
FGF5     Al-Mubarak2017:ASD-73chr4:
81188229-81188229		CTexonicUnknownnonsynonymous SNVNM_004464
NM_033143		c.C251T
c.C251T		p.S84L
p.S84L		22.0-Al-Mubarak2017 E
ITIH2     Al-Mubarak2017:ASD-69chr10:
7776959-7776959		TTTATTexonicUnknownframeshift insertionNM_002216c.1862_1863insTATTp.I621fs--Al-Mubarak2017 E
CEP152     Al-Mubarak2017:ASD-69chr15:
49064748-49064748		TGexonicUnknownnonsynonymous SNVNM_001194998
NM_014985		c.A1718C
c.A1718C		p.D573A
p.D573A		19.74-Al-Mubarak2017 E
SMS     Al-Mubarak2017:ASD-73chrX:
21995273-21995273		GTexonicUnknownnonsynonymous SNVNM_001258423
NM_004595		c.G265T
c.G424T		p.D89Y
p.D142Y		15.54-Al-Mubarak2017 E
FLNA     Al-Mubarak2017:ASD-73chrX:
153579330-153579330		AGexonicUnknownnonsynonymous SNVNM_001456
NM_001110556		c.T7079C
c.T7103C		p.V2360A
p.V2368A		22.3-Al-Mubarak2017 E
AGL     Al-Mubarak2017:ASD-9chr1:
100327811-100327811		ATsplicingUnknownsplicing21.5-Al-Mubarak2017 E
KCTD21     Al-Mubarak2017:ASD-16chr11:
77885449-77885449		CTexonicUnknownnonsynonymous SNVNM_001029859c.G152Ap.R51H29.81.0E-4Al-Mubarak2017 E
DUSP3     Al-Mubarak2017:ASD-16chr17:
41847096-41847096		CTexonicUnknownnonsynonymous SNVNM_004090c.G439Ap.V147I22.02.476E-5Al-Mubarak2017 E
APC2     Al-Mubarak2017:ASD-9chr19:
1457245-1457245		GCintronicUnknown-2.0E-4Al-Mubarak2017 E
MAN1B1     Al-Mubarak2017:ASD-16chr9:
140002840-140002840		GTexonicUnknownnonsynonymous SNVNM_016219c.G1897Tp.V633F19.961.656E-5Al-Mubarak2017 E
AVPR2     Al-Mubarak2017:ASD-16chrX:
153170948-153170960		CCCTCTCTAACCACintronicUnknown--Al-Mubarak2017 E
CRY1     Al-Mubarak2017:ASD-17chr12:
107399022-107399022		CTexonicUnknownstopgainNM_004075c.G272Ap.W91X45.0-Al-Mubarak2017 E
CFAP47     Al-Mubarak2017:ASD-16chrX:
36013665-36013665		GAintronicUnknown--Al-Mubarak2017 E
SSX3     Al-Mubarak2017:ASD-16chrX:
48213446-48213446		GTexonicUnknownnonsynonymous SNVNM_021014c.C268Ap.R90S3.655-Al-Mubarak2017 E
Source Variant Information

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Paper alias:

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Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
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