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Results for "Murdoch2015"

Variant Events: 48

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
CNTNAP2     Murdoch2015:1chr7:
146818176-146818176		GAexonicUnknownnonsynonymous SNVNM_014141c.G860Ap.S287N12.895.767E-5Murdoch2015 T
CNTNAP2     Murdoch2015:4chr7:
147815302-147815302		TGexonicUnknownnonsynonymous SNVNM_014141c.T2476Gp.Y826D24.4-Murdoch2015 T
CNTNAP2     Murdoch2015:5chr7:
147844726-147844726		CTexonicUnknownnonsynonymous SNVNM_014141c.C2698Tp.R900W25.43.296E-5Murdoch2015 T
CNTNAP2     Murdoch2015:2chr7:
146818140-146818140		AGexonicUnknownnonsynonymous SNVNM_014141c.A824Gp.H275R24.5-Murdoch2015 T
CNTNAP2     Murdoch2015:3chr7:
148080939-148080939		CTexonicUnknownnonsynonymous SNVNM_014141c.C3674Tp.S1225L15.368.598E-6Murdoch2015 T
CNTNAP2     Murdoch2015:8chr7:
147674986-147674986		AGexonicUnknownnonsynonymous SNVNM_014141c.A2288Gp.D763G21.81.647E-5Murdoch2015 T
CNTNAP2     Murdoch2015:9chr7:
146471423-146471423		CGexonicUnknownnonsynonymous SNVNM_014141c.C158Gp.S53C15.18.305E-6Murdoch2015 T
CNTNAP2     Murdoch2015:6chr7:
147914500-147914500		CTexonicUnknownnonsynonymous SNVNM_014141c.C3131Tp.P1044L4.6764.948E-5Murdoch2015 T
CNTNAP2     Murdoch2015:7chr7:
147964213-147964213		TCexonicUnknownnonsynonymous SNVNM_014141c.T3470Cp.V1157A21.4-Murdoch2015 T
CNTNAP2     Murdoch2015:12chr7:
147600681-147600681		TCexonicUnknownnonsynonymous SNVNM_014141c.T2123Cp.V708A24.35.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:13chr7:
147926795-147926795		TCexonicUnknownnonsynonymous SNVNM_014141c.T3305Cp.V1102A9.547.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:10chr7:
146536932-146536932		AGexonicUnknownnonsynonymous SNVNM_014141c.A338Gp.Y113C21.98.244E-5Murdoch2015 T
CNTNAP2     Murdoch2015:11chr7:
146825806-146825806		TCexonicUnknownnonsynonymous SNVNM_014141c.T961Cp.F321L6.607-Murdoch2015 T
CNTNAP2     Murdoch2015:16chr7:
146741012-146741012		AGexonicUnknownnonsynonymous SNVNM_014141c.A416Gp.N139S16.341.648E-5Murdoch2015 T
CNTNAP2     Murdoch2015:17chr7:
147844685-147844685		CTexonicUnknownnonsynonymous SNVNM_014141c.C2657Tp.T886I12.65-Murdoch2015 T
CNTNAP2     Murdoch2015:14chr7:
147914449-147914449		GCexonicUnknownnonsynonymous SNVNM_014141c.G3080Cp.R1027T10.471.648E-5Murdoch2015 T
CNTNAP2     Murdoch2015:15chr7:
146825896-146825896		GAexonicUnknownnonsynonymous SNVNM_014141c.G1051Ap.A351T36.04.12E-5Murdoch2015 T
CNTNAP2     Murdoch2015:20chr7:
146829473-146829473		AGexonicUnknownnonsynonymous SNVNM_014141c.A1220Gp.N407S9.129.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:21chr7:
146829505-146829505		AGexonicUnknownnonsynonymous SNVNM_014141c.A1252Gp.N418D8.6668.254E-6Murdoch2015 T
CNTNAP2     Murdoch2015:18chr7:
148106525-148106525		TCexonicUnknownnonsynonymous SNVNM_014141c.T3758Cp.I1253T16.71.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:19chr7:
147600763-147600763		CGexonicUnknownnonsynonymous SNVNM_014141c.C2205Gp.N735K28.0-Murdoch2015 T
CNTNAP2     Murdoch2015:24chr7:
147844634-147844634		TCexonicUnknownnonsynonymous SNVNM_014141c.T2606Cp.I869T16.483.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:25chr7:
147844634-147844634		TCexonicUnknownnonsynonymous SNVNM_014141c.T2606Cp.I869T16.483.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:22chr7:
147600705-147600705		AGexonicUnknownnonsynonymous SNVNM_014141c.A2147Gp.Y716C14.632.486E-5Murdoch2015 T
CNTNAP2     Murdoch2015:23chr7:
147600749-147600749		GAexonicUnknownnonsynonymous SNVNM_014141c.G2191Ap.G731S29.78.433E-6Murdoch2015 T
CNTNAP2     Murdoch2015:28chr7:
147926846-147926846		GAexonicUnknownnonsynonymous SNVNM_014141c.G3356Ap.R1119H23.52.473E-5Murdoch2015 T
CNTNAP2     Murdoch2015:29chr7:
147964128-147964128		GCexonicUnknownnonsynonymous SNVNM_014141c.G3385Cp.D1129H15.798.237E-6Murdoch2015 T
CNTNAP2     Murdoch2015:26chr7:
147844634-147844634		TCexonicUnknownnonsynonymous SNVNM_014141c.T2606Cp.I869T16.483.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:27chr7:
147844745-147844745		GAexonicUnknownnonsynonymous SNVNM_014141c.G2717Ap.R906H17.624.123E-5Murdoch2015 T
CNTNAP2     Murdoch2015:32chr7:
148112545-148112545		CTexonicUnknownnonsynonymous SNVNM_014141c.C3833Tp.T1278I6.3672.484E-5Murdoch2015 T
CNTNAP2     Murdoch2015:33chr7:
146471465-146471465		AGexonicUnknownnonsynonymous SNVNM_014141c.A200Gp.K67R1.1711.733E-5Murdoch2015 T
CNTNAP2     Murdoch2015:30chr7:
148080944-148080944		GAexonicUnknownnonsynonymous SNVNM_014141c.G3679Ap.A1227T16.478.636E-6Murdoch2015 T
CNTNAP2     Murdoch2015:31chr7:
148106525-148106525		TCexonicUnknownnonsynonymous SNVNM_014141c.T3758Cp.I1253T16.71.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:36chr7:
146829419-146829419		GAexonicUnknownnonsynonymous SNVNM_014141c.G1166Ap.R389Q12.292.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:37chr7:
146829500-146829500		CTexonicUnknownnonsynonymous SNVNM_014141c.C1247Tp.A416V12.250.0018Murdoch2015 T
CNTNAP2     Murdoch2015:34chr7:
146536934-146536934		CTexonicUnknownnonsynonymous SNVNM_014141c.C340Tp.R114W19.993.298E-5Murdoch2015 T
CNTNAP2     Murdoch2015:35chr7:
146536994-146536994		TGexonicUnknownnonsynonymous SNVNM_014141c.T400Gp.W134G14.212.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:40chr7:
147675079-147675079		AGexonicUnknownnonsynonymous SNVNM_014141c.A2381Gp.D794G25.18.254E-6Murdoch2015 T
CNTNAP2     Murdoch2015:41chr7:
147815275-147815275		GAexonicUnknownnonsynonymous SNVNM_014141c.G2449Ap.G817R29.03.295E-5Murdoch2015 T
CNTNAP2     Murdoch2015:38chr7:
147092805-147092805		GAexonicUnknownnonsynonymous SNVNM_014141c.G1603Ap.E535K13.832.474E-5Murdoch2015 T
CNTNAP2     Murdoch2015:39chr7:
147675066-147675066		CTexonicUnknownnonsynonymous SNVNM_014141c.C2368Tp.R790C25.11.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:44chr7:
147964128-147964128		GCexonicUnknownnonsynonymous SNVNM_014141c.G3385Cp.D1129H15.798.237E-6Murdoch2015 T
CNTNAP2     Murdoch2015:45chr7:
148080944-148080944		GAexonicUnknownnonsynonymous SNVNM_014141c.G3679Ap.A1227T16.478.636E-6Murdoch2015 T
CNTNAP2     Murdoch2015:42chr7:
147844595-147844595		TAexonicUnknownnonsynonymous SNVNM_014141c.T2567Ap.V856E24.6-Murdoch2015 T
CNTNAP2     Murdoch2015:43chr7:
147844634-147844634		TCexonicUnknownnonsynonymous SNVNM_014141c.T2606Cp.I869T16.483.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:48chr7:
148112631-148112631		GAexonicUnknownnonsynonymous SNVNM_014141c.G3919Ap.A1307T25.85.768E-5Murdoch2015 T
CNTNAP2     Murdoch2015:46chr7:
148106525-148106525		TCexonicUnknownnonsynonymous SNVNM_014141c.T3758Cp.I1253T16.71.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:47chr7:
148112545-148112545		CTexonicUnknownnonsynonymous SNVNM_014141c.C3833Tp.T1278I6.3672.484E-5Murdoch2015 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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