Variant Results

or

Results for "TMEM131L"

Variant Events: 30

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

TMEM131L

133338

chr4:
154544151-154544151

G

C

exonic

nonsynonymous SNV

NM_001131007
NM_015196

c.G3961C
c.G3958C

p.G1321R
p.G1320R

27.9

-

Woodbury-Smith2022 E

TMEM131L

MSSNG00105-004

chr4:
154450471-154450471

T

A

intronic

De novo

-

Trost2022 G

TMEM131L

AU047704

chr4:
154443609-154443609

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM131L

SP0004093

chr4:
154524442-154524442

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

TMEM131L

E3F6Y_01

chr4:
154464849-154464849

G

A

intronic

De novo

-

Trost2022 G

TMEM131L

AU3713302

chr4:
154395204-154395204

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM131L

REACH000182

chr4:
154420661-154420661

C

T

intronic

De novo

-

Trost2022 G

TMEM131L

2-1090-003

chr4:
154434000-154434000

G

A

intronic

De novo

-

Trost2022 G

TMEM131L

Lim2017:10802

chr4:
154506747-154506747

C

T

exonic

De novo

nonsynonymous SNV

NM_001131007
NM_015196

c.C1295T
c.C1292T

p.T432I
p.T431I

16.92

8.24E-6

Lim2017 E

TMEM131L

SP0060061

chr4:
154519804-154519804

A

G

exonic

De novo

nonsynonymous SNV

NM_001131007
NM_015196

c.A2186G
c.A2183G

p.K729R
p.K728R

5.34

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TMEM131L

2-0320-003

chr4:
154458372-154458372

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM131L

AU2029302

chr4:
154427887-154427887

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM131L

AU2029302

chr4:
154434007-154434007

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM131L

MSSNG00203-003

chr4:
154479880-154479880

G

A

intronic

De novo

-

Trost2022 G

TMEM131L

REACH000601

chr4:
154530713-154530713

C

T

intronic

De novo

-

Trost2022 G

TMEM131L

3-0432-000

chr4:
154423310-154423310

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TMEM131L

mAGRE1884

chr4:
154507490-154507491

AT

A

exonic

Paternal

frameshift deletion

NM_001131007
NM_015196

c.1442delT
c.1439delT

p.I481fs
p.I480fs

-

Cirnigliaro2023 G

TMEM131L

mAGRE1883

chr4:
154507490-154507491

AT

A

exonic

Paternal

frameshift deletion

NM_001131007
NM_015196

c.1442delT
c.1439delT

p.I481fs
p.I480fs

-

Cirnigliaro2023 G

TMEM131L

iHART1884

chr4:
154507490-154507491

AT

A

exonic

Paternal

frameshift deletion

NM_001131007
NM_015196

c.1442delT
c.1439delT

p.I481fs
p.I480fs

-

Ruzzo2019 G

TMEM131L

iHART1883

chr4:
154507490-154507491

AT

A

exonic

Paternal

frameshift deletion

NM_001131007
NM_015196

c.1442delT
c.1439delT

p.I481fs
p.I480fs

-

Ruzzo2019 G

TMEM131L

AU2029303

chr4:
154427887-154427887

C

T

intronic

De novo

-

Yuen2017 G

TMEM131L

AU2029303

chr4:
154434007-154434007

G

A

intronic

De novo

-

Yuen2017 G

TMEM131L

1-0024-003

chr4:
154419676-154419676

A

G

intronic

De novo

-

Yuen2017 G

TMEM131L

1-0286-004

chr4:
154480238-154480238

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM131L

2-1315-003

chr4:
154436629-154436629

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TMEM131L

7-0024-003

chr4:
154484077-154484077

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM131L

7-0068-003

chr4:
154387589-154387589

C

T

exonic

De novo

nonsynonymous SNV

NM_001131007
NM_015196

c.C40T
c.C40T

p.R14C
p.R14C

13.68

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

TMEM131L

AU036203

chr4:
154444441-154444441

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TMEM131L

2-1335-004

chr4:
154493899-154493899

G

A

intronic

De novo

-

Yuen2017 G

TMEM131L

10802

chr4:
154506747-154506747

C

T

exonic

De novo

nonsynonymous SNV

NM_001131007
NM_015196

c.C1295T
c.C1292T

p.T432I
p.T431I

16.92

8.24E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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