Variant Results

or

or

Results for "TMEM229A"

Variant Events: 21

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

TMEM229A

AU4392302

chr7:
123972720-123972720

C

T

intergenic

De novo

-

-

Yuen2017 G

TMEM229A

13539.p1

chr7:
123958270-123958270

T

C

intergenic

De novo

-

-

Turner2016 G

TMEM229A

SSC02644

chr7:
123672649-123672649

C

A

exonic

De novo

nonsynonymous SNV

NM_001136002

c.G409T

p.G137C

10.97

Trost2022 G

TMEM229A

AU0146302

chr7:
123764197-123764197

G

T

intergenic

De novo

-

-

Yuen2017 G

TMEM229A

1-0025-006

chr7:
123698933-123698933

T

A

intergenic

De novo

-

-

Yuen2017 G

TMEM229A

13806.p1

chr7:
123672998-123672998

A

G

exonic

synonymous SNV

NM_001136002

c.T60C

p.R20R

-

-

Zhou2022 GE

TMEM229A

2-1442-003

chr7:
123963126-123963126

T

TA

intergenic

De novo

-

-

Yuen2016 G

TMEM229A

2-1381-003

chr7:
123937847-123937850

CTGT

CT

intergenic

De novo

-

-

Yuen2017 G

TMEM229A

11085.p1

chr7:
123672649-123672649

C

A

exonic

De novo

nonsynonymous SNV

NM_001136002

c.G409T

p.G137C

10.97

Satterstrom2020 E

TMEM229A

7-0251-003

chr7:
123691711-123691711

G

T

intergenic

De novo

-

-

Yuen2017 G

TMEM229A

1-0203-003

chr7:
123893161-123893161

C

A

intergenic

De novo

-

-

Yuen2017 G

TMEM229A

2-1278-003

chr7:
123940296-123940296

A

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

TMEM229A

AU046706

chr7:
123939141-123939142

TC

T

intergenic

De novo

-

-

Yuen2017 G

TMEM229A

1-0683-004

chr7:
123722029-123722038

AGCCTCACAG

A

intergenic

De novo

-

-

Yuen2017 G

TMEM229A

2-1373-003

chr7:
123839851-123839851

T

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

TMEM229A

AU3811301

chr7:
123716029-123716029

A

G

intergenic

De novo

-

-

Yuen2017 G

TMEM229A

AU2109302

chr7:
123898721-123898721

A

G

intergenic

De novo

-

-

Yuen2017 G

TMEM229A

AU4234303

chr7:
123868733-123868733

C

A

intergenic

De novo

-

-

Yuen2017 G

TMEM229A

AU2756306

chr7:
123787165-123787165

G

C

intergenic

De novo

-

-

Yuen2017 G

TMEM229A

2-1196-003

chr7:
123712421-123712421

G

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

TMEM229A

7-0251-003

chr7:
123691713-123691713

T

G

intergenic

De novo

-

-

Yuen2017 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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