Variant Results

or

or

Results for "QSER1"

Variant Events: 15

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

QSER1

7-0035-003

chr11:
32971216-32971216

C

T

intronic

De novo

-

-

Yuen2017 G

QSER1

A18

chr11:
32955979-32955979

C

G

exonic

De novo

nonsynonymous SNV

NM_001076786

c.C2788G

p.L930V

11.12

-

Jiao2019 E

QSER1

368-05-104915

chr11:
33014733-33014733

G

A

intergenic

De novo

3.853

-

Fu2022 E
Satterstrom2020 E

QSER1

SP0098351

chr11:
32954657-32954657

C

T

exonic

De novo

nonsynonymous SNV

NM_001076786

c.C1466T

p.P489L

12.07

Fu2022 E

QSER1

111297

chr11:
32975709-32975709

A

G

exonic

nonsynonymous SNV

NM_001076786

c.A4097G

p.D1366G

24.5

-

Woodbury-Smith2022 E

QSER1

NDAR_INVCW452LNC_wes1

chr11:
32997870-32997870

C

T

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

QSER1

NDAR_INVRT684RNC_wes1

chr11:
32997870-32997870

C

T

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

QSER1

2-1567-004

chr11:
33015269-33015272

GTTA

G

intergenic

De novo

-

-

Yuen2017 G

QSER1

11432.p1

chr11:
32953753-32953753

G

T

exonic

Mosaic

nonsynonymous SNV

NM_001076786

c.G562T

p.V188F

19.73

-

Dou2017 E

QSER1

20-0720301-18

chr11:
32955457-32955457

C

G

exonic

De novo

nonsynonymous SNV

NM_001076786

c.C2266G

p.R756G

14.75

-

Fu2022 E
Satterstrom2020 E

QSER1

2-1338-003

chr11:
32976679-32976679

A

G

intronic

De novo

-

-

Yuen2017 G

QSER1

AU3154302

chr11:
32925964-32925964

C

G

intronic

De novo

-

-

Yuen2017 G

QSER1

2-1429-003

chr11:
33010307-33010307

G

A

intergenic

De novo

-

-

Yuen2017 G

QSER1

2-1251-003

chr11:
32928045-32928045

A

G

intronic

De novo

-

-

Yuen2017 G

QSER1

AU3368303

chr11:
32951742-32951742

A

G

intronic

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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