or
or
Exact

Results for "Sandoval-Talamantes2023"

Variant Events: 23

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
CACNA1A     Sandoval-Talamantes2023:AUT221chr19:
13616924-13616924
CTexonicnonsynonymous SNVNM_001127221
NM_001127222
c.G115A
c.G115A
p.G39S
p.G39S
18.85-Sandoval-Talamantes2023 T
CHD1     Sandoval-Talamantes2023:AUT183chr5:
98239553-98239553
CGexonicnonsynonymous SNVNM_001270c.G315Cp.Q105H15.65-Sandoval-Talamantes2023 T
CHD7     Sandoval-Talamantes2023:AUT114chr8:
61748826-61748826
TCexonicnonsynonymous SNVNM_017780c.T3973Cp.Y1325H23.35.065E-5Sandoval-Talamantes2023 T
SCN2A     Sandoval-Talamantes2023:AUT108chr2:
166246206-166246206
GAexonicnonsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.G5890A
c.G5890A
c.G5890A
p.D1964N
p.D1964N
p.D1964N
17.8-Sandoval-Talamantes2023 T
NBEAL1     Sandoval-Talamantes2023:AUT99chr2:
203972789-203972790
TGTexonicframeshift deletionNM_001114132c.1741delGp.V581fs--Sandoval-Talamantes2023 T
KCNJ11     Sandoval-Talamantes2023:AUT99chr11:
17409314-17409314
GTexonicnonsynonymous SNVNM_000525
NM_001166290
c.C325A
c.C64A
p.P109T
p.P22T
8.1328.267E-6Sandoval-Talamantes2023 T
MED13L     Sandoval-Talamantes2023:AUT23chr12:
116460315-116460316
AAAexonicframeshift deletionNM_015335c.570delTp.Y190fs--Sandoval-Talamantes2023 T
CHD2     Sandoval-Talamantes2023:AUT195chr15:
93499873-93499873
CTexonicnonsynonymous SNVNM_001271c.C1994Tp.P665L36.08.266E-6Sandoval-Talamantes2023 T
SETD2     Sandoval-Talamantes2023:AUT195chr3:
47098975-47098975
TCexonicnonsynonymous SNVNM_014159c.A6299Gp.D2100G19.85-Sandoval-Talamantes2023 T
SCN2A     Sandoval-Talamantes2023:AUT187chr2:
166201291-166201291
ACexonicnonsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.A2789C
c.A2789C
c.A2789C
p.H930P
p.H930P
p.H930P
24.6-Sandoval-Talamantes2023 T
CREBBP     Sandoval-Talamantes2023:AUT157chr16:
3807860-3807860
GAexonicstopgainNM_001079846
NM_004380
c.C3445T
c.C3559T
p.Q1149X
p.Q1187X
49.0-Sandoval-Talamantes2023 T
EEF1A2     Sandoval-Talamantes2023:AUT149chr20:
62126300-62126300
GAexonicnonsynonymous SNVNM_001958c.C479Tp.P160L23.7-Sandoval-Talamantes2023 T
CACNA1D     Sandoval-Talamantes2023:AUT142chr3:
53834319-53834319
GAexonicnonsynonymous SNVNM_001128839
NM_001128840
NM_000720
c.G4922A
c.G4967A
c.G5027A
p.R1641H
p.R1656H
p.R1676H
33.0-Sandoval-Talamantes2023 T
CACNA1A     Sandoval-Talamantes2023:AUT117chr19:
13356069-13356069
CTexonicnonsynonymous SNVNM_001127221
NM_001127222
c.G4880A
c.G4877A
p.R1627H
p.R1626H
12.984.984E-5Sandoval-Talamantes2023 T
CHD7     Sandoval-Talamantes2023:AUT115chr8:
61748826-61748826
TCexonicnonsynonymous SNVNM_017780c.T3973Cp.Y1325H23.35.065E-5Sandoval-Talamantes2023 T
KMT2D     Sandoval-Talamantes2023:AUT171chr12:
49424177-49424177
TGexonicnonsynonymous SNVNM_003482c.A13885Cp.T4629P12.74-Sandoval-Talamantes2023 T
CACNA1A     Sandoval-Talamantes2023:AUT161chr19:
13320158-13320158
CTexonicnonsynonymous SNVNM_001127221
NM_001127222
c.G6497A
c.G6494A
p.R2166H
p.R2165H
16.752.0E-4Sandoval-Talamantes2023 T
ZEB2     Sandoval-Talamantes2023:AUT152chr2:
145156985-145156985
AGexonicnonsynonymous SNVNM_001171653
NM_014795
c.T1697C
c.T1769C
p.F566S
p.F590S
16.62-Sandoval-Talamantes2023 T
SPTBN1     Sandoval-Talamantes2023:AUT152chr2:
54876139-54876139
CTexonicnonsynonymous SNVNM_178313
NM_003128
c.C4975T
c.C5014T
p.R1659W
p.R1672W
23.23.433E-5Sandoval-Talamantes2023 T
TCF20     Sandoval-Talamantes2023:AUT147chr22:
42610858-42610858
ACexonicnonsynonymous SNVNM_181492
NM_005650
c.T454G
c.T454G
p.Y152D
p.Y152D
17.93-Sandoval-Talamantes2023 T
CEP290     Sandoval-Talamantes2023:AUT140chr12:
88508950-88508950
GAexonicnonsynonymous SNVNM_025114c.C1834Tp.L612F23.1-Sandoval-Talamantes2023 T
NRXN1     Sandoval-Talamantes2023:AUT120chr2:
51255335-51255335
TTGCTexonicnonframeshift insertionNM_001135659
NM_004801
c.76_77insAGC
c.76_77insAGC
p.E26delinsEQ
p.E26delinsEQ
--Sandoval-Talamantes2023 T
MED13     Sandoval-Talamantes2023:AUT118chr17:
60140605-60140605
GAexonicnonsynonymous SNVNM_005121c.C124Tp.P42S33.08.282E-6Sandoval-Talamantes2023 T
Source Variant Information

, -

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
More