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Results for "SRCAP"

Variant Events: 26

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
SRCAP       SP0096706chr16:
30748849-30748849
TTGexonicDe novoframeshift insertionNM_006662c.7488_7489insGp.S2496fs--Fu2022 E
SRCAP       SP0074498chr16:
30750722-30750722
CTexonicDe novononsynonymous SNVNM_006662c.C9361Tp.R3121W9.8388.256E-6Fu2022 E
SRCAP       SP0103632chr16:
30723462-30723462
CTexonicDe novononsynonymous SNVNM_006662c.C1799Tp.T600M15.4-Fu2022 E
SRCAP       SSC08935chr16:
30745033-30745044
TGACAGCGACTGTexonicframeshift deletionNM_006662c.6409_6419delp.D2137fs--Antaki2022 GE
SRCAP       1-0226-005chr16:
30740738-30740742
ATGCCAexonicDe novoframeshift deletionNM_006662c.5973_5976delp.H1991fs--Yuen2017 G
SRCAP       13857_p1chr16:
30745033-30745044
TGACAGCGACTGTexonicDe novoframeshift deletionNM_006662c.6409_6419delp.D2137fs--Fu2022 E
SRCAP       SP0094887chr16:
30715612-30715612
CTexonicDe novosynonymous SNVNM_006662c.C282Tp.A94A-1.695E-5Fu2022 E
SRCAP       SP0004093chr16:
30750345-30750345
CGexonicDe novononsynonymous SNVNM_006662c.C8984Gp.T2995S7.918-Fu2022 E
SRCAP       200675379_1082034622chr16:
30745076-30745076
CTexonicDe novononsynonymous SNVNM_006662c.C6451Tp.R2151C14.66-Fu2022 E
SRCAP       131749chr16:
30749291-30749293
CTGCexonicDe novoframeshift deletionNM_006662c.7931_7932delp.L2644fs--Fu2022 E
SRCAP       2-1178-003chr16:
30719223-30719223
CTintronicDe novo--Yuen2016 G
Yuen2017 G
SRCAP       SSC03520chr16:
30740437-30740437
GAexonicDe novononsynonymous SNVNM_006662c.G5809Ap.G1937S14.311.648E-5Fu2022 E
SRCAP       DEASD_0030_001chr16:
30747939-30747939
GCexonicDe novononsynonymous SNVNM_006662c.G7002Cp.Q2334H8.917-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SRCAP       215-13132-1493chr16:
30727385-30727385
AGsplicingDe novosplicing20.9-Stessman2017 T
Stessman2017 T
SRCAP       L3C2Schr16:
30734420-30734421
TCCexonicInheritedframeshift deletionNM_006662c.4029delTp.N1343fs--Stessman2017 T
SRCAP       AU031104chr16:
30750482-30750482
CTexonicUnknownstopgainNM_006662c.C9121Tp.R3041X47.0-Stessman2017 T
SRCAP       11909.p1chr16:
30740437-30740437
GAexonicDe novononsynonymous SNVNM_006662c.G5809Ap.G1937S14.311.648E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
SRCAP       13857.p1chr16:
30745033-30745044
TGACAGCGACTGTexonicDe novoframeshift deletionNM_006662c.6409_6419delp.D2137fs--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
SRCAP       AGG0230chr16:
30750722-30750722
CTexonicDe novononsynonymous SNVNM_006662c.C9361Tp.R3121W9.8388.256E-6Fu2022 E
Satterstrom2020 E
SRCAP       08C77155chr16:
30727385-30727385
AGsplicingDe novosplicing20.9-Fu2022 E
Satterstrom2020 E
SRCAP       200675379@1082034622chr16:
30745076-30745076
CTexonicDe novononsynonymous SNVNM_006662c.C6451Tp.R2151C14.66-Satterstrom2020 E
SRCAP       AU065807chr16:
30728670-30728670
CTintronicDe novo--Yuen2017 G
SRCAP       AU3142302chr16:
30745227-30745231
ACGGAACGGACGGAexonicInheritedframeshift insertionNM_006662c.6511_6512insCGGAp.T2171fs--Stessman2017 T
SRCAP       13211.p1chr16:
30735924-30735924
ATexonicDe novononsynonymous SNVNM_006662c.A5179Tp.T1727S12.96-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
SRCAP       EGAN00001101028chr16:
30736038-30736038
GCexonicDe novononsynonymous SNVNM_006662c.G5293Cp.A1765P9.867-Fu2022 E
Satterstrom2020 E
SRCAP       SSC06970chr16:
30735924-30735924
ATexonicDe novononsynonymous SNVNM_006662c.A5179Tp.T1727S12.96-Fu2022 E
Lim2017 E
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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