Variant Results

or

or

Results for "GRB14"

Variant Events: 19

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

GRB14

REACH000643

chr2:
165386788-165386788

C

A

intronic

De novo

-

-

Trost2022 G

GRB14

MT_27.3

chr2:
165409103-165409103

A

G

intronic

De novo

-

-

Trost2022 G

GRB14

4-0084-003

chr2:
165360065-165360065

C

A

intronic

De novo

-

-

Trost2022 G

GRB14

2-1369-003

chr2:
165426376-165426376

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

GRB14

SP0071535

chr2:
165477827-165477827

G

A

UTR5

De novo

-

-

Fu2022 E
Trost2022 G

GRB14

REACH000735

chr2:
165376487-165376487

T

C

intronic

De novo

-

-

Trost2022 G

GRB14

AU005214

chr2:
165364742-165364742

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GRB14

REACH000249

chr2:
165353787-165353787

C

T

exonic

De novo

nonsynonymous SNV

NM_001303422
NM_004490

c.G967A
c.G1228A

p.G323R
p.G410R

17.67

-

Trost2022 G
Zhou2022 GE

GRB14

MSSNG00146-003

chr2:
165527813-165527813

G

T

intergenic

De novo

-

-

Trost2022 G

GRB14

2-1722-003

chr2:
165531746-165531746

C

T

intergenic

De novo

-

-

Trost2022 G
Yuen2017 G

GRB14

1-1119-003

chr2:
165458536-165458536

A

C

intronic

De novo

-

-

Trost2022 G

GRB14

2-1549-003

chr2:
165473703-165473703

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GRB14

5-5057-003

chr2:
165467185-165467185

A

C

intronic

De novo

-

-

Trost2022 G

GRB14

1-0006-003

chr2:
165436767-165436773

TAATTTT

ACC

intronic

De novo

-

-

Trost2022 G

GRB14

3-0833-000

chr2:
165438938-165438938

T

A

intronic

De novo

-

-

Trost2022 G

GRB14

REACH000616

chr2:
165411255-165411255

T

A

intronic

De novo

-

-

Trost2022 G

GRB14

1-0006-004

chr2:
165436767-165436773

TAATTTT

ACC

intronic

De novo

-

-

Trost2022 G

GRB14

2-0210-004

chr2:
165500888-165500888

A

C

intergenic

De novo

-

-

Yuen2017 G

GRB14

TUPH

chr2:
165381589-165381589

C

A

splicing

De novo

splicing

24.6

-

O’Roak2014 T

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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