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Results for "Lowther2023"

Variant Events: 51

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
ANKRD11     13875.p1chr16:
89346730-89346730		CAexonicDe novostopgainNM_001256183
NM_013275
NM_001256182		c.G6220T
c.G6220T
c.G6220T		p.E2074X
p.E2074X
p.E2074X		49.0-Lowther2023 G
SHANK3     14470.p1chr22:
51159932-51159932		TTGexonicDe novoframeshift insertionNM_033517c.3630dupGp.L1210fs-6.0E-4Lowther2023 G
DYRK1A     13552.p1chr21:
38877833-38877834		GCGexonicDe novoframeshift deletionNM_001396
NM_130436
NM_130438
NM_101395		c.1488delC
c.1461delC
c.1488delC
c.1488delC		p.S496fs
p.S487fs
p.S496fs
p.S496fs		--Lowther2023 G
DYRK1A     12099.p1chr21:
38845116-38845118		CATCexonicDe novoframeshift deletionNM_001396
NM_130436
NM_130438
NM_101395		c.142_143del
c.142_143del
c.142_143del
c.142_143del		p.I48fs
p.I48fs
p.I48fs
p.I48fs		--Lowther2023 G
SYNGAP1     13073.p1chr6:
33408650-33408652		CTTCexonicDe novoframeshift deletionNM_006772c.1822_1823delp.F608fs--Lowther2023 G
ARID1B     14640.p1chr6:
157100567-157100568		AGAexonicDe novoframeshift deletionNM_017519
NM_020732		c.1505delG
c.1505delG		p.S502fs
p.S502fs		--Lowther2023 G
KMT2E     12952.p1chr7:
104748100-104748101		TCTexonicDe novoframeshift deletionNM_018682
NM_182931		c.3197delC
c.3197delC		p.S1066fs
p.S1066fs		--Lowther2023 G
NRXN1     12501.p1chr2:
50724605-50724605		ATexonicDe novostopgainNM_004801
NM_001135659		c.T2745A
c.T2865A		p.Y915X
p.Y955X		49.0-Lowther2023 G
CHD8     14233.p1chr14:
21859175-21859175		AATexonicDe novoframeshift insertionNM_001170629
NM_020920		c.7112dupA
c.6275dupA		p.N2371fs
p.N2092fs		--Lowther2023 G
CHD8     14016.p1chr14:
21870169-21870169		GAexonicDe novostopgainNM_001170629
NM_020920		c.C4009T
c.C3172T		p.R1337X
p.R1058X		36.0-Lowther2023 G
CHD8     11654.p1chr14:
21871373-21871373		TCsplicingDe novosplicing19.43-Lowther2023 G
ACADM     14634.p1chr1:
76226846-76226846		AGexonicMaternalnonsynonymous SNVNM_001286044
NM_001286042
NM_000016
NM_001127328
NM_001286043		c.A418G
c.A877G
c.A985G
c.A997G
c.A1084G		p.K140E
p.K293E
p.K329E
p.K333E
p.K362E		16.680.0033Lowther2023 G
ACADM     14634.p1chr1:
76205779-76205779		GAexonicMaternalnonsynonymous SNVNM_001286044
NM_001286042
NM_000016
NM_001127328
NM_001286043		c.G16A
c.G475A
c.G583A
c.G595A
c.G682A		p.G6R
p.G159R
p.G195R
p.G199R
p.G228R		24.72.473E-5Lowther2023 G
DEPDC5     14174.p1chr22:
32269319-32269319		GAsplicingMaternalsplicing22.0-Lowther2023 G
HEXB     11277.p1chr5:
74014629-74014629		CTexonicUnknownnonsynonymous SNVNM_000521
NM_001292004		c.C1250T
c.C575T		p.P417L
p.P192L		18.97.0E-4Lowther2023 G
NF1     14542.p1chr17:
29496923-29496927		CTGTTCexonicPaternalframeshift deletionNM_000267
NM_001042492
NM_001128147		c.495_498del
c.495_498del
c.495_498del		p.T165fs
p.T165fs
p.T165fs		--Lowther2023 G
SMARCA4     14482.p1chr19:
11141434-11141434		GGAACGGCCCGTTGGCATCGAGCCGCCGGCGCGCGGTTTCGAGCACexonicDe novoframeshift insertionNM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844		c.3411_3412insAACGGCCCGTTGGCATCGAGCCGCCGGCGCGCGGTTTCGAGCAC
c.3411_3412insAACGGCCCGTTGGCATCGAGCCGCCGGCGCGCGGTTTCGAGCAC
c.3411_3412insAACGGCCCGTTGGCATCGAGCCGCCGGCGCGCGGTTTCGAGCAC
c.3411_3412insAACGGCCCGTTGGCATCGAGCCGCCGGCGCGCGGTTTCGAGCAC
c.3411_3412insAACGGCCCGTTGGCATCGAGCCGCCGGCGCGCGGTTTCGAGCAC
c.3411_3412insAACGGCCCGTTGGCATCGAGCCGCCGGCGCGCGGTTTCGAGCAC
c.3411_3412insAACGGCCCGTTGGCATCGAGCCGCCGGCGCGCGGTTTCGAGCAC		p.M1137fs
p.M1137fs
p.M1137fs
p.M1137fs
p.M1137fs
p.M1137fs
p.M1137fs		--Lowther2023 G
NALCN     13985.p1chr13:
101714321-101714323		GCTGexonicMaternalframeshift deletionNM_052867c.4752_4753delp.R1584fs--Lowther2023 G
AFF2     14096.p1chrX:
148068931-148068931		TTCexonicUnknownframeshift insertionNM_001170628
NM_001169122
NM_001169124
NM_001169125
NM_001169123
NM_002025		c.2582dupC
c.3554dupC
c.3554dupC
c.3542dupC
c.3629dupC
c.3659dupC		p.S861fs
p.S1185fs
p.S1185fs
p.S1181fs
p.S1210fs
p.S1220fs		--Lowther2023 G
NF1     13882.p1chr17:
29559852-29559852		CGexonicDe novostopgainNM_000267
NM_001042492		c.C3449G
c.C3449G		p.S1150X
p.S1150X		47.0-Lowther2023 G
ARID1B     14393.p1chr6:
157510805-157510805		AACexonicDe novoframeshift insertionNM_017519
NM_020732		c.3542dupC
c.3581dupC		p.T1181fs
p.T1194fs		--Lowther2023 G
KMT5B     12864.p1chr11:
67938481-67938481		CTsplicingDe novosplicing16.07-Lowther2023 G
SCN2A     11892.p1chr2:
166201379-166201379		CAexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C2877A
c.C2877A
c.C2877A		p.C959X
p.C959X
p.C959X		42.0-Lowther2023 G
TBL1XR1     14612.p1chr3:
176752047-176752048		TATexonicDe novoframeshift deletionNM_024665c.1188delTp.T396fs--Lowther2023 G
SCN2A     11114.p1chr2:
166210819-166210819		GTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.G3037T
c.G3037T
c.G3037T		p.G1013X
p.G1013X
p.G1013X		40.0-Lowther2023 G
CTCF     14346.p1chr16:
67650748-67650748		CCAexonicDe novoframeshift insertionNM_001191022
NM_006565		c.70dupA
c.1054dupA		p.F23fs
p.F351fs		--Lowther2023 G
NFIB     14385.p1chr9:
14150143-14150143		CTsplicingDe novosplicing20.8-Lowther2023 G
CTNNB1     12211.p1chr3:
41275346-41275346		GAexonicDe novostopgainNM_001098209
NM_001098210
NM_001904		c.G1512A
c.G1512A
c.G1512A		p.W504X
p.W504X
p.W504X		42.0-Lowther2023 G
DYRK1A     13890.p1chr21:
38865466-38865466		GAsplicingDe novosplicing28.2-Lowther2023 G
NFIA     13670.p1chr1:
61553905-61553905		CTexonicDe novostopgainNM_001134673
NM_001145511
NM_005595
NM_001145512		c.C112T
c.C88T
c.C112T
c.C247T		p.R38X
p.R30X
p.R38X
p.R83X		40.0-Lowther2023 G
MECP2     13518.p1chrX:
153296399-153296399		GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337		c.C916T
c.C880T
c.C601T		p.R306X
p.R294X
p.R201X		32.0-Lowther2023 G
WAC     14200.p1chr10:
28879673-28879675		CAACexonicDe novoframeshift deletionNM_016628
NM_100264
NM_100486		c.523_524del
c.388_389del
c.523_524del		p.K175fs
p.K130fs
p.K175fs		--Lowther2023 G
WAC     14204.p1chr10:
28899668-28899672		AATTCAexonicDe novoframeshift deletionNM_100486
NM_016628
NM_100264		c.898_901del
c.1207_1210del
c.1072_1075del		p.I300fs
p.I403fs
p.I358fs		--Lowther2023 G
ARID1B     13447.p1chr6:
157527664-157527668		CTGTTCexonicDe novoframeshift deletionNM_017519
NM_020732		c.5351_5354del
c.5390_5393del		p.L1784fs
p.L1797fs		--Lowther2023 G
ASH1L     11282.p1chr1:
155317482-155317482		CCCTTGexonicDe novoframeshift insertionNM_018489c.7767_7768insCAAGp.D2590fs--Lowther2023 G
RERE     11654.p1chr1:
8421289-8421289		GAexonicDe novostopgainNM_001042682
NM_001042681
NM_012102		c.C616T
c.C2278T
c.C2278T		p.Q206X
p.Q760X
p.Q760X		39.0-Lowther2023 G
POGZ     13398.p1chr1:
151377903-151377903		TTCGTCATCAexonicDe novoframeshift insertionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.3322_3323insTGATGACG
c.3448_3449insTGATGACG
c.3421_3422insTGATGACG
c.3580_3581insTGATGACG
c.3607_3608insTGATGACG		p.E1108fs
p.E1150fs
p.E1141fs
p.E1194fs
p.E1203fs		--Lowther2023 G
MED13L     14416.p1chr12:
116424952-116424952		CTexonicDe novostopgainNM_015335c.G4076Ap.W1359X45.0-Lowther2023 G
PHF21A     11339.p1chr11:
45971023-45971024		CTCexonicDe novoframeshift deletionNM_001101802
NM_016621		c.1153delA
c.1156delA		p.S385fs
p.S386fs		--Lowther2023 G
CHD2     13614.p1chr15:
93563244-93563244		CTexonicDe novostopgainNM_001271c.C4909Tp.R1637X49.0-Lowther2023 G
CHD2     13818.p1chr15:
93563282-93563282		TTGexonicDe novoframeshift insertionNM_001271c.4948dupGp.G1649fs--Lowther2023 G
KMT2E     14299.p1chr7:
104702706-104702707		ACAexonicDe novostopgainNM_018682
NM_182931		c.168delC
c.168delC		p.Y56X
p.Y56X		--Lowther2023 G
PPM1D     12340.p1chr17:
58740376-58740376		GAexonicDe novostopgainNM_003620c.G1281Ap.W427X38.0-Lowther2023 G
CHD2     13618.p1chr15:
93524060-93524064		TAAAGTexonicDe novoframeshift deletionNM_001271c.2893_2896delp.K965fs--Lowther2023 G
ANKRD11     12507.p1chr16:
89350771-89350775		CTTTGCexonicDe novoframeshift deletionNM_001256183
NM_013275
NM_001256182		c.2175_2178del
c.2175_2178del
c.2175_2178del		p.N725fs
p.N725fs
p.N725fs		--Lowther2023 G
ANKRD11     13905.p1chr16:
89351042-89351047		GTGTTTGexonicDe novoframeshift deletionNM_001256183
NM_013275
NM_001256182		c.1903_1907del
c.1903_1907del
c.1903_1907del		p.K635fs
p.K635fs
p.K635fs		--Lowther2023 G
KCNQ2     11075.p1chr20:
62070073-62070099		CCTGCAATTCATCAGGGTCAGGTCACACsplicingDe novosplicing--Lowther2023 G
PTEN     14433.p1chr10:
89692908-89692908		CTexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.C392T
c.C911T		p.T131I
p.T304I		27.8-Lowther2023 G
PTEN     11390.p1chr10:
89711882-89711882		CAexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.C500A
c.C1019A		p.T167N
p.T340N		28.6-Lowther2023 G
ZMYND11     13513.p1chr10:
293337-293337		GAsplicingDe novosplicing26.9-Lowther2023 G
KAT6A     12108.p1chr8:
41906209-41906213		TTTTGTexonicDe novoframeshift deletionNM_001305878
NM_006766		c.283_286del
c.283_286del		p.Q95fs
p.Q95fs		--Lowther2023 G
Source Variant Information

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Source:

Paper alias:

No records found.
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
Curation notesView
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