Variant Results

or

or

Results for "GTF2IRD1"

Variant Events: 16

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

GTF2IRD1

AU3586303

chr7:
73932144-73932144

C

G

intronic

De novo

-

-

Yuen2017 G

GTF2IRD1

2-1375-003

chr7:
74037292-74037292

G

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

GTF2IRD1

AU3779302

chr7:
74005204-74005204

C

T

exonic

De novo

nonsynonymous SNV

NM_001199207
NM_005685
NM_016328

c.C2545T
c.C2449T
c.C2494T

p.R849W
p.R817W
p.R832W

21.0

-

Yuen2017 G

GTF2IRD1

AU3712302

chr7:
73907341-73907341

G

A

intronic

De novo

-

-

Yuen2017 G

GTF2IRD1

7-0148-003

chr7:
73951009-73951009

A

G

intronic

De novo

-

-

Yuen2017 G

GTF2IRD1

SP0005107

chr7:
73952519-73952519

G

T

intronic

De novo

-

Fu2022 E

GTF2IRD1

2-0063-003

chr7:
73916573-73916573

A

T

intronic

De novo

-

-

Yuen2017 G

GTF2IRD1

SP0139196

chr7:
73949381-73949381

C

T

intronic

De novo

-

-

Fu2022 E

GTF2IRD1

2-0273-003

chr7:
74014944-74014944

A

G

intronic

De novo

-

-

Yuen2017 G

GTF2IRD1

1-0673-003

chr7:
73886674-73886674

A

T

intronic

De novo

-

-

Yuen2017 G

GTF2IRD1

AU3636302

chr7:
73910499-73910499

G

A

intronic

De novo

-

-

Yuen2017 G

GTF2IRD1

12295.p1

chr7:
73969529-73969529

A

G

exonic

De novo

nonsynonymous SNV

NM_001199207
NM_005685
NM_016328

c.A2038G
c.A1942G
c.A1942G

p.K680E
p.K648E
p.K648E

12.89

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E

GTF2IRD1

2-0122-003

chr7:
73896807-73896807

C

T

intronic

De novo

-

-

Yuen2017 G

GTF2IRD1

SP0085417

chr7:
73959021-73959021

G

A

intronic

De novo

-

-

Fu2022 E

GTF2IRD1

GEA331

chr7:
74015575-74015575

C

T

intronic

De novo

12.57

-

Fu2022 E

GTF2IRD1

SSC04105

chr7:
73969529-73969529

A

G

exonic

De novo

nonsynonymous SNV

NM_001199207
NM_005685
NM_016328

c.A2038G
c.A1942G
c.A1942G

p.K680E
p.K648E
p.K648E

12.89

Fu2022 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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