Variant Results

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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

G010396

chrX:
76889089-76889089

A

G

exonic

nonsynonymous SNV

NM_138270
NM_000489

c.T4807C
c.T4921C

p.W1603R
p.W1641R

17.05

-

Sanchis-Juan2023 G

ZC4H2

G004769

chrX:
64140024-64140024

C

T

exonic

nonsynonymous SNV

NM_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

G007340

chrX:
48935311-48935311

C

CT

exonic

frameshift insertion

NM_001029896
NM_007075

c.225dupA
c.225dupA

p.E76fs
p.E76fs

-

-

Sanchis-Juan2023 G

WDR45

G007339

chrX:
48935311-48935311

C

CT

exonic

frameshift insertion

NM_001029896
NM_007075

c.225dupA
c.225dupA

p.E76fs
p.E76fs

-

-

Sanchis-Juan2023 G

STXBP1

G003426

chr9:
130439033-130439033

G

T

splicing

splicing

29.1

-

Sanchis-Juan2023 G

STXBP1

G004769

chr9:
130425623-130425623

G

A

exonic

nonsynonymous SNV

NM_001032221
NM_003165

c.G569A
c.G569A

p.R190Q
p.R190Q

36.0

-

Sanchis-Juan2023 G

SRD5A3

G004762

chr4:
56212560-56212560

G

A

exonic

stopgain

NM_024592

c.G57A

p.W19X

36.0

Sanchis-Juan2023 G

DHX30

G012138

chr3:
47888247-47888247

A

G

exonic

nonsynonymous SNV

NM_138615
NM_014966

c.A1685G
c.A1568G

p.H562R
p.H523R

20.5

-

Sanchis-Juan2023 G

SCN1A

G001260

chr2:
166911147-166911147

C

T

splicing

splicing

27.6

-

Sanchis-Juan2023 G

SCN1A

G006382

chr2:
166848815-166848815

C

T

exonic

nonsynonymous SNV

NM_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

G013996

chr2:
149799227-149799227

T

G

exonic

nonsynonymous SNV

NM_004522

c.T542G

p.M181R

15.02

-

Sanchis-Juan2023 G

RPE65

G011492

chr1:
68903914-68903914

G

A

exonic

stopgain

NM_000329

c.C1084T

p.Q362X

38.0

-

Sanchis-Juan2023 G

NFIA

G002682

chr1:
61849013-61849013

C

T

exonic

stopgain

NM_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

, -

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 notes	View
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