Variant Results

or

or

Results for "CTH"

Variant Events: 12

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

CTH

2-1153-003

chr1:
71015386-71015386

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

CTH

AU4027306

chr1:
70928147-70928147

C

A

intergenic

De novo

-

-

Yuen2017 G

CTH

AU4028302

chr1:
70944353-70944353

C

T

intergenic

De novo

-

-

Yuen2017 G

CTH

13324.p1

chr1:
70893320-70893320

A

C

intronic

De novo

-

-

Turner2016 G

CTH

1-0232-004

chr1:
70898118-70898118

C

T

intronic

De novo

-

-

Yuen2017 G

CTH

AU2129303

chr1:
71015933-71015937

GCACA

GCA

intergenic

De novo

-

-

Yuen2017 G

CTH

SP0105842

chr1:
70900822-70900822

C

T

exonic

De novo

synonymous SNV

NM_001190463
NM_153742
NM_001902

c.C918T
c.C882T
c.C1014T

p.A306A
p.A294A
p.A338A

-

-

Fu2022 E

CTH

2-0057-003

chr1:
71000874-71000874

C

T

intergenic

De novo

-

-

Yuen2017 G

CTH

AU3862305

chr1:
71106827-71106827

T

A

intergenic

De novo

-

-

Yuen2017 G

CTH

08C78508

chr1:
70889989-70889989

A

G

exonic

De novo

nonsynonymous SNV

NM_001190463
NM_001902

c.A382G
c.A478G

p.T128A
p.T160A

17.67

-

Fu2022 E
Satterstrom2020 E

CTH

2-1426-003

chr1:
71091911-71091911

C

T

intergenic

De novo

-

-

Yuen2017 G

CTH

AU005214

chr1:
70876596-70876596

C

T

upstream

De novo

-

-

Yuen2017 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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