Variant Results

or

Results for "TCHH"

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

TCHH

SP0109367

chr1:
152083087-152083087

C

A

exonic

De novo

nonsynonymous SNV

NM_007113

c.G2606T

p.R869L

9.876

-

Fu2022 E

TCHH

14379_p1

chr1:
152080982-152080982

G

C

exonic

De novo

nonsynonymous SNV

NM_007113

c.C4711G

p.Q1571E

9.998

-

Fu2022 E

TCHH

SP0000607

chr1:
152084291-152084291

C

T

exonic

De novo

nonsynonymous SNV

NM_007113

c.G1402A

p.E468K

5.539

8.288E-6

Feliciano2019 E

TCHH

1-0627-006

chr1:
152096695-152096695

T

G

intergenic

De novo

-

Yuen2017 G

TCHH

1-0498-003

chr1:
152107216-152107232

CAGAGAGAGAGAGAGAG

CAGAGAGAGAGAGAG

intergenic

De novo

-

Yuen2017 G

TCHH

14379.p1

chr1:
152080982-152080982

G

C

exonic

De novo

nonsynonymous SNV

NM_007113

c.C4711G

p.Q1571E

9.998

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

TCHH

2-1702-003

chr1:
152078084-152078084

C

T

downstream

De novo

-

Yuen2017 G

TCHH

13601.p1

chr1:
152082606-152082696

TTCCTGCTGCAGCTCGTCTTTTTTGCGGTACTGCCTCTCCCACTCCTGGCGCCTTCTCTTCTCCCGTTCCTCTCTCAGCAGCTGCTCTTCC

T

exonic

De novo

nonframeshift deletion

NM_007113

c.2997_3086del

p.999_1029del

-

Satterstrom2020 E

TCHH

iHART1291

chr1:
152081684-152081688

TTCTG

T

exonic

Paternal

frameshift deletion

NM_007113

c.4005_4008del

p.D1335fs

-

3.0E-4

Ruzzo2019 G

TCHH

iHART2308

chr1:
152080861-152080865

TGTTG

T

exonic

Maternal

frameshift deletion

NM_007113

c.4828_4831del

p.Q1610fs

-

4.142E-5

Ruzzo2019 G

TCHH

iHART1573

chr1:
152084156-152084161

CCTCTT

C

exonic

Paternal

frameshift deletion

NM_007113

c.1532_1536del

p.Q511fs

-

8.351E-6

Ruzzo2019 G

TCHH

SP0011734

chr1:
152082220-152082220

G

T

exonic

De novo

nonsynonymous SNV

NM_007113

c.C3473A

p.P1158Q

2.075

1.661E-5

Feliciano2019 E

TCHH

iHART1295

chr1:
152081684-152081688

TTCTG

T

exonic

Paternal

frameshift deletion

NM_007113

c.4005_4008del

p.D1335fs

-

3.0E-4

Ruzzo2019 G

TCHH

2-1345-003

chr1:
152110273-152110273

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TCHH

AC04-0038-04_a

chr1:
152080947-152081181

ACGGAATTTTCTGTCACGCTCTTGGCGGCTCAGCTGCTGTTCCTCCCTCTCCTGGCGCAGCTGTTCCTCCTCGCGGAATTTTCTGTCACGGTCCTGACGCCGCTGTTGCCCGCGCTCCTGGCGGCGCAGCTGCTGTTCCTCCTGGAGGAATTTTCTCTGCCGTTGCTGGCGGTGCAGCTGCTGTTCCTCCTCGAGGAATTTTCTCTCTGGTTCCTGACTGCGCAGTTCCTGTTCG

A

exonic

De novo

nonframeshift deletion

NM_007113

c.4512_4745del

p.1504_1582del

-

5.798E-5

Satterstrom2020 E

TCHH

SSC12226

chr1:
152082500-152082500

C

T

exonic

De novo

nonsynonymous SNV

NM_007113

c.G3193A

p.G1065R

5.119

6.0E-4

Lim2017 E

TCHH

11417.p1

chr1:
152082310-152082400

CGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTCCCGACATTGCCTCTCCCGCTCCTGGCGCCTTCTCTTCTCCG

C

exonic

De novo

nonframeshift deletion

NM_007113

c.3293_3382del

p.1098_1128del

-

4.146E-5

Satterstrom2020 E

TCHH

DEASD_1020_001

chr1:
152080172-152080172

G

A

exonic

De novo

stopgain

NM_007113

c.C5521T

p.R1841X

40.0

8.28E-6

Fu2022 E
Satterstrom2020 E

TCHH

G01-GEA-312-HI

chr1:
152082475-152082476

CG

C

exonic

De novo

frameshift deletion

NM_007113

c.3217delC

p.R1073fs

-

Satterstrom2020 E

TCHH

MT_160

chr1:
152081724-152081724

C

G

exonic

Paternal

nonsynonymous SNV

NM_007113

c.G3969C

p.E1323D

13.57

-

Toma2013 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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