Variant Results

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Results for "Valentino2021"

Variant Events: 11

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

TREX1

Valentino2021:38

chr3:
48508446-48508462

TCCCCCTGCTCCAAGCA

T

exonic

Inherited

frameshift deletion

NM_016381
NM_007248
NM_033629

c.558_573del
c.363_378del
c.393_408del

p.F186fs
p.F121fs
p.F131fs

-

-

Valentino2021 E

SYNGAP1

Valentino2021:36

chr6:
33410665-33410665

G

A

splicing

De novo

splicing

17.02

-

Valentino2021 E

WFS1

Valentino2021:42

chr4:
6279306-6279306

C

T

exonic

Unknown

stopgain

NM_001145853
NM_006005

c.C124T
c.C124T

p.R42X
p.R42X

21.8

Valentino2021 E

UPF3B

Valentino2021:40

chrX:
118971734-118971734

G

A

exonic

Inherited

stopgain

NM_023010
NM_080632

c.C1249T
c.C1288T

p.R417X
p.R430X

37.0

-

Valentino2021 E

KCNQ3

Valentino2021:18

chr8:
133192493-133192493

G

A

exonic

De novo

nonsynonymous SNV

NM_001204824
NM_004519

c.C328T
c.C688T

p.R110C
p.R230C

24.1

-

Valentino2021 E

FGFR3

Valentino2021:14

chr4:
1803571-1803571

C

G

exonic

De novo

nonsynonymous SNV

NM_000142
NM_001163213
NM_022965

c.C749G
c.C749G
c.C749G

p.P250R
p.P250R
p.P250R

16.65

-

Valentino2021 E

SHANK3

Valentino2021:32

chr22:
51153476-51153476

G

A

splicing

De novo

splicing

12.65

-

Valentino2021 E

SHANK3

Valentino2021:31

chr22:
51158931-51158931

C

CGC

exonic

De novo

frameshift insertion

NM_033517

c.2628_2629insGC

p.R876fs

-

-

Valentino2021 E

DDX3X

Valentino2021:11

chrX:
41203603-41203603

C

T

exonic

De novo

nonsynonymous SNV

NM_001193417
NM_001193416
NM_001356

c.C928T
c.C976T
c.C976T

p.R310C
p.R326C
p.R326C

34.0

-

Valentino2021 E

BCOR

Valentino2021:4

chrX:
39933823-39933823

G

A

exonic

De novo

nonsynonymous SNV

NM_001123383
NM_001123384
NM_001123385
NM_017745

c.C776T
c.C776T
c.C776T
c.C776T

p.S259L
p.S259L
p.S259L
p.S259L

19.31

-

Valentino2021 E

UTS2R

Valentino2021:45

chr17:
80333044-80333044

C

T

exonic

Unknown

stopgain

NM_018949

c.C844T

p.Q282X

36.0

-

Valentino2021 E

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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