Variant Results

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Results for "TMEM57"

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

TMEM57

13614_p1

chr1:
25810772-25810772

G

A

intronic

De novo

-

-

Fu2022 E

TMEM57

B208603

chr1:
25785151-25785151

A

T

exonic

De novo

nonsynonymous SNV

NM_018202

c.A922T

p.N308Y

22.0

-

Fu2022 E

TMEM57

AU073003

chr1:
25840117-25840117

A

G

intergenic

De novo

-

-

Yuen2017 G

TMEM57

AU3792301

chr1:
25803983-25803983

C

T

intronic

De novo

-

-

Trost2022 G

TMEM57

AU3728301

chr1:
25849275-25849275

C

T

intergenic

De novo

-

-

Yuen2017 G

TMEM57

REACH000377

chr1:
25767457-25767457

A

G

intronic

De novo

-

-

Trost2022 G

TMEM57

IGM10609

chr1:
25775374-25775375

CT

C

exonic

De novo

frameshift deletion

NM_001282564
NM_018202

c.299delT
c.299delT

p.L100fs
p.L100fs

-

Fu2022 E

TMEM57

SP0162696

chr1:
25815692-25815692

C

T

exonic

De novo

nonsynonymous SNV

NM_001282564
NM_018202

c.C844T
c.C1525T

p.R282W
p.R509W

24.6

-

Trost2022 G

TMEM57

1-0960-003

chr1:
25805248-25805248

A

G

intronic

De novo

-

-

Trost2022 G

TMEM57

2-1417-003

chr1:
25855973-25855973

G

GTGT

intergenic

De novo

-

-

Yuen2017 G

TMEM57

13614.p1

chr1:
25810772-25810772

G

A

intronic

De novo

-

-

Krumm2015 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TMEM57

1-0139-005

chr1:
25857604-25857604

T

C

intergenic

De novo

-

-

Yuen2017 G

TMEM57

2-1174-006

chr1:
25785570-25785570

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TMEM57

AU3852301

chr1:
25825187-25825187

C

T

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

TMEM57

9190783

chr1:
25810717-25810717

G

A

exonic

De novo

nonsynonymous SNV

NM_001282564
NM_018202

c.G584A
c.G1265A

p.R195H
p.R422H

36.0

-

Fu2022 E

TMEM57

1-0459-003

chr1:
25855914-25855914

T

TA

intergenic

De novo

-

-

Yuen2017 G

Source Variant Information

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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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