Variant Results

or

Results for "THEMIS"

Variant Events: 31

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

THEMIS

2-0142-003

chr6:
128183603-128183604

TG

CA

intronic

De novo

-

Trost2022 G

THEMIS

1-1159-003

chr6:
128183908-128183908

G

C

intronic

De novo

-

Trost2022 G

THEMIS

1-0912-003

chr6:
128235145-128235145

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

THEMIS

2-0295-003

chr6:
128110671-128110671

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

THEMIS

iHART3295

chr6:
128128360-128128360

C

T

splicing

Paternal

splicing

0.663

-

Ruzzo2019 G

THEMIS

AU3807302

chr6:
128224437-128224437

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

THEMIS

iHART2682

chr6:
128134565-128134566

CA

C

exonic

Paternal

frameshift deletion

NM_001010923
NM_001164685
NM_001164687

c.1220delT
c.1220delT
c.1115delT

p.V407fs
p.V407fs
p.V372fs

-

8.252E-6

Ruzzo2019 G

THEMIS

iHART2145

chr6:
128134234-128134238

TACTA

T

exonic

Maternal

frameshift deletion

NM_001010923
NM_001164685
NM_001164687

c.1548_1551del
c.1548_1551del
c.1443_1446del

p.V516fs
p.V516fs
p.V481fs

-

8.243E-6

Ruzzo2019 G

THEMIS

AU4468301

chr6:
128045769-128045769

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

THEMIS

7-0215-003

chr6:
128078581-128078593

CATATATATATAT

CATATATATAT

intronic

De novo

-

Yuen2017 G

THEMIS

6248

chr6:
128151058-128151058

T

C

exonic

De novo

nonsynonymous SNV

NM_001010923
NM_001164685
NM_001164687

c.A272G
c.A272G
c.A167G

p.D91G
p.D91G
p.D56G

19.61

-

Fu2022 E

THEMIS

12153.p1

chr6:
128151058-128151058

T

C

exonic

De novo

nonsynonymous SNV

NM_001010923
NM_001164685
NM_001164687

c.A272G
c.A272G
c.A167G

p.D91G
p.D91G
p.D56G

19.61

-

Ji2016 E
Krumm2015 E

THEMIS

1-0467-003

chr6:
128069813-128069813

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

THEMIS

AU4310301

chr6:
128120486-128120486

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

THEMIS

1-0965-003

chr6:
128206455-128206455

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

THEMIS

1-0336-003

chr6:
128217195-128217195

T

TA

intronic

De novo

-

Yuen2017 G

THEMIS

mAGRE2682

chr6:
128134565-128134566

CA

C

exonic

Paternal

frameshift deletion

NM_001010923
NM_001164685
NM_001164687

c.1220delT
c.1220delT
c.1115delT

p.V407fs
p.V407fs
p.V372fs

-

8.252E-6

Cirnigliaro2023 G

THEMIS

mAGRE2145

chr6:
128134234-128134238

TACTA

T

exonic

Maternal

frameshift deletion

NM_001010923
NM_001164685
NM_001164687

c.1548_1551del
c.1548_1551del
c.1443_1446del

p.V516fs
p.V516fs
p.V481fs

-

8.243E-6

Cirnigliaro2023 G

THEMIS

AU4234302

chr6:
128128360-128128360

C

T

splicing

Paternal

splicing

0.663

-

Cirnigliaro2023 G

THEMIS

1-0344-003

chr6:
128091429-128091429

A

G

intronic

De novo

-

Yuen2017 G

THEMIS

7-0103-003

chr6:
128271473-128271473

T

A

intergenic

De novo

-

Yuen2017 G

THEMIS

1-0197-003

chr6:
128033892-128033896

CTAAA

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

THEMIS

AU2288301

chr6:
128172788-128172788

A

G

intronic

De novo

-

Trost2022 G

THEMIS

2-0142-003

chr6:
128182912-128182912

C

G

intronic

De novo

-

Trost2022 G

THEMIS

1-0112-004

chr6:
128261024-128261024

C

A

intergenic

De novo

-

Yuen2017 G

THEMIS

MSSNG00380-003

chr6:
128148174-128148177

TTTG

T

intronic

De novo

-

Trost2022 G

THEMIS

REACH000757

chr6:
128156116-128156116

C

T

intronic

De novo

-

Trost2022 G

THEMIS

1023

chr6:
128076248-128076248

G

T

intronic

De novo

-

Trost2022 G

THEMIS

MSSNG00394-003

chr6:
128142207-128142209

TAA

T

intronic

De novo

-

Trost2022 G

THEMIS

SP0182377

chr6:
128031122-128031122

A

G

UTR3

De novo

-

Trost2022 G

THEMIS

MSSNG00024-004

chr6:
128067197-128067197

C

G

intronic

De novo

-

Trost2022 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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