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Results for "Sanchis-Juan2023"

Variant Events: 13

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
ATRX     G010396chrX:
76889089-76889089
AGexonicnonsynonymous SNVNM_138270
NM_000489
c.T4807C
c.T4921C
p.W1603R
p.W1641R
17.05-Sanchis-Juan2023 G
ZC4H2     G004769chrX:
64140024-64140024
CTexonicnonsynonymous SNVNM_001178032
NM_001178033
NM_001243804
NM_018684
c.G266A
c.G335A
c.G266A
c.G335A
p.R89H
p.R112H
p.R89H
p.R112H
32.0-Sanchis-Juan2023 G
WDR45     G007340chrX:
48935311-48935311
CCTexonicframeshift insertionNM_001029896
NM_007075
c.225dupA
c.225dupA
p.E76fs
p.E76fs
--Sanchis-Juan2023 G
WDR45     G007339chrX:
48935311-48935311
CCTexonicframeshift insertionNM_001029896
NM_007075
c.225dupA
c.225dupA
p.E76fs
p.E76fs
--Sanchis-Juan2023 G
STXBP1     G003426chr9:
130439033-130439033
GTsplicingsplicing29.1-Sanchis-Juan2023 G
STXBP1     G004769chr9:
130425623-130425623
GAexonicnonsynonymous SNVNM_001032221
NM_003165
c.G569A
c.G569A
p.R190Q
p.R190Q
36.0-Sanchis-Juan2023 G
SRD5A3     G004762chr4:
56212560-56212560
GAexonicstopgainNM_024592c.G57Ap.W19X36.04.0E-4Sanchis-Juan2023 G
DHX30     G012138chr3:
47888247-47888247
AGexonicnonsynonymous SNVNM_138615
NM_014966
c.A1685G
c.A1568G
p.H562R
p.H523R
20.5-Sanchis-Juan2023 G
SCN1A     G001260chr2:
166911147-166911147
CTsplicingsplicing27.6-Sanchis-Juan2023 G
SCN1A     G006382chr2:
166848815-166848815
CTexonicnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.G4970A
c.G4886A
c.G4937A
c.G4970A
p.R1657H
p.R1629H
p.R1646H
p.R1657H
29.6-Sanchis-Juan2023 G
KIF5C     G013996chr2:
149799227-149799227
TGexonicnonsynonymous SNVNM_004522c.T542Gp.M181R15.02-Sanchis-Juan2023 G
RPE65     G011492chr1:
68903914-68903914
GAexonicstopgainNM_000329c.C1084Tp.Q362X38.0-Sanchis-Juan2023 G
NFIA     G002682chr1:
61849013-61849013
CTexonicstopgainNM_001134673
NM_001145511
NM_005595
NM_001145512
c.C1051T
c.C1027T
c.C1051T
c.C1186T
p.R351X
p.R343X
p.R351X
p.R396X
41.0-Sanchis-Juan2023 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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