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Results for "Alvarez-Mora2016"

Variant Events: 24

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
EHMT1     Alvarez-Mora2016:ASD-14chr9:
140672377-140672377		GAexonicUnknownnonsynonymous SNVNM_001145527
NM_024757		c.G2062A
c.G2062A		p.A688T
p.A688T		2.152-Alvarez-Mora2016 T
KDM5C     Alvarez-Mora2016:ASD-11chrX:
53224196-53224196		TGexonicUnknownnonsynonymous SNVNM_001146702
NM_001282622
NM_004187		c.A3154C
c.A3352C
c.A3355C		p.M1052L
p.M1118L
p.M1119L		13.21-Alvarez-Mora2016 T
GABRB3     Alvarez-Mora2016:ASD-15chr15:
27018841-27018841		GAexonicPaternalnonsynonymous SNVNM_021912c.C31Tp.P11S4.4280.0058Alvarez-Mora2016 T
CYFIP1     Alvarez-Mora2016:ASD-15chr15:
22956343-22956343		CTexonicPaternalnonsynonymous SNVNM_001033028c.C287Tp.A96V9.7738.263E-5Alvarez-Mora2016 T
ARID1B     Alvarez-Mora2016:ASD-2chr6:
157099799-157099799		GAexonicPaternalnonsynonymous SNVNM_017519
NM_020732		c.G736A
c.G736A		p.G246S
p.G246S		10.850.0042Alvarez-Mora2016 T
FOXG1     Alvarez-Mora2016:ASD-10chr14:
29237941-29237941		CTexonicMaternalnonsynonymous SNVNM_005249c.C1456Tp.P486S12.53-Alvarez-Mora2016 T
MECP2     Alvarez-Mora2016:ASD-7chrX:
153295949-153295949		CTexonicUnknownnonsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.G1366A
c.G1330A
c.G1051A		p.A456T
p.A444T
p.A351T		5.2070.001Alvarez-Mora2016 T
ADNP     Alvarez-Mora2016:ASD-23chr20:
49509924-49509924		TCexonicUnknownnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.A1327G
c.A1327G
c.A1327G
c.A1327G		p.T443A
p.T443A
p.T443A
p.T443A		12.1-Alvarez-Mora2016 T
MED12     Alvarez-Mora2016:ASD-22chrX:
70361148-70361151		ACAAACAACAACAACATCAAexonicDe novononframeshift insertionNM_005120c.6339_6340insCAACAACATCAAp.Q2113delinsQQQHQ--Alvarez-Mora2016 T
LAMC3     Alvarez-Mora2016:ASD-27chr9:
133967011-133967011		CTexonicMaternalnonsynonymous SNVNM_006059c.C4565Tp.P1522L10.791.0E-4Alvarez-Mora2016 T
SCN1A     Alvarez-Mora2016:ASD-25chr2:
166900411-166900411		CTexonicMaternalnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435		c.G1811A
c.G1811A
c.G1811A
c.G1811A		p.R604H
p.R604H
p.R604H
p.R604H		13.670.0015Alvarez-Mora2016 T
SETD2     Alvarez-Mora2016:ASD-20chr3:
47103768-47103768		AGexonicPaternalnonsynonymous SNVNM_014159c.T6178Cp.S2060P19.22-Alvarez-Mora2016 T
CNTNAP2     Alvarez-Mora2016:ASD-17chr7:
147914587-147914587		ATexonicPaternalnonsynonymous SNVNM_014141c.A3218Tp.D1073V22.5-Alvarez-Mora2016 T
CACNA1C     Alvarez-Mora2016:ASD-21chr12:
2797859-2797859		GAexonicMaternalnonsynonymous SNVNM_001129837
NM_001129838
NM_001129839
NM_001129846
NM_000719
NM_001129829
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001167623
NM_001167625
NM_001129830
NM_001129831
NM_001129832
NM_001167624
NM_001129827
NM_199460		c.G6055A
c.G6055A
c.G6049A
c.G5998A
c.G6031A
c.G6154A
c.G6088A
c.G6088A
c.G6088A
c.G6082A
c.G6031A
c.G6031A
c.G6031A
c.G6031A
c.G6022A
c.G6031A
c.G6211A
c.G6136A
c.G6115A
c.G6091A
c.G6136A
c.G6175A
c.G6280A		p.V2019I
p.V2019I
p.V2017I
p.V2000I
p.V2011I
p.V2052I
p.V2030I
p.V2030I
p.V2030I
p.V2028I
p.V2011I
p.V2011I
p.V2011I
p.V2011I
p.V2008I
p.V2011I
p.V2071I
p.V2046I
p.V2039I
p.V2031I
p.V2046I
p.V2059I
p.V2094I		7.1329.824E-6Alvarez-Mora2016 T
SBF1     Alvarez-Mora2016:ASD-21chr22:
50893127-50893127		GCexonicMaternalnonsynonymous SNVNM_002972c.C4857Gp.D1619E12.94-Alvarez-Mora2016 T
LAMC3     Alvarez-Mora2016:ASD-51chr9:
133952638-133952638		GAexonicMaternalnonsynonymous SNVNM_006059c.G3694Ap.A1232T16.47-Alvarez-Mora2016 T
ARID1B     Alvarez-Mora2016:ASD-44chr6:
157099185-157099185		CTexonicPaternalnonsynonymous SNVNM_017519
NM_020732		c.C122T
c.C122T		p.S41F
p.S41F		9.383-Alvarez-Mora2016 T
FOXP2     Alvarez-Mora2016:ASD-56chr7:
114268687-114268687		GTexonicPaternalnonsynonymous SNVNM_148899
NM_001172766
NM_001172767
NM_014491
NM_148900
NM_148898		c.G351T
c.G351T
c.G426T
c.G351T
c.G351T
c.G426T		p.Q117H
p.Q117H
p.Q142H
p.Q117H
p.Q117H
p.Q142H		14.82-Alvarez-Mora2016 T
RELN     Alvarez-Mora2016:ASD-55chr7:
103234931-103234931		TCexonicMaternalnonsynonymous SNVNM_005045
NM_173054		c.A3548G
c.A3548G		p.Y1183C
p.Y1183C		17.078.257E-6Alvarez-Mora2016 T
CTNNB1     Alvarez-Mora2016:ASD-33chr3:
41280742-41280742		GCexonicUnknownnonsynonymous SNVNM_001098209
NM_001098210
NM_001904		c.G2255C
c.G2255C
c.G2255C		p.G752A
p.G752A
p.G752A		13.81.652E-5Alvarez-Mora2016 T
EHMT1     Alvarez-Mora2016:ASD-27chr9:
140707849-140707849		GAexonicMaternalnonsynonymous SNVNM_024757c.G3047Ap.R1016Q17.44-Alvarez-Mora2016 T
LAMC3     Alvarez-Mora2016:ASD-40chr9:
133945082-133945082		GAexonicUnknownnonsynonymous SNVNM_006059c.G2914Ap.A972T11.41.656E-5Alvarez-Mora2016 T
ARID1B     Alvarez-Mora2016:ASD-35chr6:
157099799-157099799		GAexonicUnknownnonsynonymous SNVNM_017519
NM_020732		c.G736A
c.G736A		p.G246S
p.G246S		10.850.0042Alvarez-Mora2016 T
ARID1B     Alvarez-Mora2016:ASD-57chr6:
157099799-157099799		GAexonicPaternalnonsynonymous SNVNM_017519
NM_020732		c.G736A
c.G736A		p.G246S
p.G246S		10.850.0042Alvarez-Mora2016 T
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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