Variant Results

or

or

Results for "TCP10"

Variant Events: 20

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

TCP10

1-0213-004

chr6:
168051057-168051057

C

T

intergenic

De novo

-

-

Yuen2017 G

TCP10

2-1210-003

chr6:
167849192-167849192

A

G

intergenic

De novo

-

-

Yuen2017 G

TCP10

AU2777302

chr6:
167936969-167936969

C

T

intergenic

De novo

-

-

Yuen2017 G

TCP10

13929_p1

chr6:
167787839-167787839

C

G

exonic

De novo

nonsynonymous SNV

NM_004610

c.G789C

p.Q263H

10.77

Fu2022 E

TCP10

1-0382-003

chr6:
168042180-168042180

A

G

intergenic

De novo

-

-

Yuen2017 G

TCP10

A1320B

chr6:
167791571-167791571

G

T

exonic

De novo

nonsynonymous SNV

NM_004610

c.C289A

p.P97T

0.036

Fu2022 E

TCP10

2-0306-004

chr6:
168043423-168043438

AGTGTGTGTGTGTGTG

AGTGTGTGTGTGTG

intergenic

De novo

-

-

Yuen2017 G

TCP10

7-0167-003

chr6:
167786976-167786976

C

T

intronic

De novo

-

-

Yuen2017 G

TCP10

AU3636302

chr6:
167876127-167876127

G

A

intergenic

De novo

-

-

Yuen2017 G

TCP10

2-1509-003

chr6:
168049284-168049284

C

G

intergenic

De novo

-

-

Yuen2017 G

TCP10

2-0296-003

chr6:
168052735-168052739

GTACA

G

intergenic

De novo

-

-

Yuen2017 G

TCP10

12498.p1

chr6:
167847325-167847325

C

T

intergenic

De novo

-

-

Turner2016 G

TCP10

5-0077-004

chr6:
167896269-167896271

TAC

T

intergenic

De novo

-

-

Yuen2017 G

TCP10

2-1428-003

chr6:
167810011-167810011

C

T

intergenic

De novo

-

-

Yuen2017 G

TCP10

SP0118519

chr6:
167789529-167789529

C

A

exonic

De novo

nonsynonymous SNV

NM_004610

c.G613T

p.G205C

3.704

-

Fu2022 E
Trost2022 G

TCP10

1-0402-003

chr6:
167905301-167905301

G

GCACACACACTCCCA

intergenic

De novo

-

-

Yuen2017 G

TCP10

11736.p1

chr6:
167874299-167874299

C

T

intergenic

De novo

-

-

Werling2018 G

TCP10

2-1409-003

chr6:
167820074-167820074

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

TCP10

AU3052302

chr6:
167889189-167889189

G

T

intergenic

De novo

-

-

Yuen2017 G

TCP10

1-0213-003

chr6:
168051057-168051057

C

T

intergenic

De novo

-

-

Yuen2016 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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