Variant Results

or

or

Results for "TXLNB"

Variant Events: 13

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

TXLNB

2-1277-004

chr6:
139658597-139658597

C

G

intergenic

De novo

-

-

Yuen2017 G

TXLNB

SP0006741

chr6:
139563858-139563858

C

T

exonic

De novo

synonymous SNV

NM_153235

c.G1860A

p.E620E

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TXLNB

SP0091837

chr6:
139609759-139609759

T

C

exonic

De novo

nonsynonymous SNV

NM_153235

c.A278G

p.E93G

15.03

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TXLNB

1-0524-003

chr6:
139599944-139599944

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TXLNB

1-0991-003

chr6:
139630200-139630200

A

G

intergenic

De novo

-

-

Yuen2017 G

TXLNB

3-0458-000

chr6:
139608122-139608122

T

A

intronic

De novo

-

-

Yuen2016 G

TXLNB

13539.p1

chr6:
139672186-139672186

C

T

intergenic

De novo

-

-

Turner2016 G

TXLNB

5-0038-003

chr6:
139613080-139613084

GAAGA

G

UTR5

De novo

-

-

Trost2022 G

TXLNB

3-0458-000B

chr6:
139608122-139608122

T

A

intronic

De novo

-

-

Yuen2017 G

TXLNB

AU3794301

chr6:
139583799-139583799

G

A

exonic

Paternal

stopgain

NM_153235

c.C799T

p.R267X

40.0

Cirnigliaro2023 G

TXLNB

mAGRE4782

chr6:
139564453-139564453

T

C

splicing

Paternal

splicing

24.6

-

Cirnigliaro2023 G

TXLNB

mAGRE4781

chr6:
139564453-139564453

T

C

splicing

Paternal

splicing

24.6

-

Cirnigliaro2023 G

TXLNB

Cukier2014:7870

chr6:
139598010-139598010

G

A

exonic

Unknown

nonsynonymous SNV

NM_153235

c.C473T

p.P158L

23.9

Cukier2014 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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