Variant Results

or

or

Results for "GET4"

Variant Events: 12

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

GET4

MSSNG00384-003

chr7:
922588-922588

C

T

intronic

De novo

-

-

Trost2022 G

GET4

SP0122771

chr7:
935047-935047

C

T

exonic

De novo

synonymous SNV

NM_015949

c.C972T

p.I324I

-

Fu2022 E
Trost2022 G
Zhou2022 GE

GET4

SP0103027

chr7:
935048-935048

G

A

exonic

De novo

nonsynonymous SNV

NM_015949

c.G973A

p.E325K

22.0

Fu2022 E
Trost2022 G
Zhou2022 GE

GET4

14027.p1

chr7:
936048-936048

G

A

UTR3

De novo

-

-

Wilfert2021 G

GET4

iHART2853

chr7:
933417-933417

C

T

exonic

Paternal

stopgain

NM_015949

c.C787T

p.Q263X

54.0

-

Ruzzo2019 G

GET4

mAGRE2853

chr7:
933417-933417

C

T

exonic

Paternal

stopgain

NM_015949

c.C787T

p.Q263X

54.0

-

Cirnigliaro2023 G

GET4

SP0041375

chr7:
932085-932085

G

T

intronic

De novo

-

Fu2022 E
Trost2022 G

GET4

2-0286-004

chr7:
923586-923586

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GET4

SP0046549

chr7:
923396-923396

T

C

intronic

De novo

-

-

Fu2022 E
Trost2022 G

GET4

AU3517301

chr7:
927644-927644

T

C

intronic

De novo

-

-

Yuen2017 G

GET4

AU3692302

chr7:
922426-922426

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GET4

12795.p1

chr7:
920995-920995

T

C

intronic

De novo

-

-

Turner2016 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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