Variant Results

or

Results for "CERS6"

Variant Events: 45

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

CERS6

2-1801-003

chr2:
169481797-169481797

A

G

intronic

De novo

-

Trost2022 G

CERS6

1-0664-003A

chr2:
169523286-169523286

G

A

intronic

De novo

-

Trost2022 G

CERS6

12449.p1

chr2:
169446196-169446196

A

G

intronic

De novo

-

Turner2016 G

CERS6

5-0131-003

chr2:
169472045-169472048

CTTT

AAAAA

intronic

De novo

-

Trost2022 G

CERS6

1-0874-003

chr2:
169354293-169354293

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CERS6

2-1738-003

chr2:
169433608-169433608

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CERS6

MT_54.3

chr2:
169475282-169475282

G

A

intronic

De novo

-

Trost2022 G

CERS6

2-1294-004

chr2:
169436410-169436410

G

A

intronic

De novo

-

Trost2022 G

CERS6

1-0285-004

chr2:
169460900-169460900

C

CGTGT

intronic

De novo

-

Trost2022 G

CERS6

10-0006-003

chr2:
169358563-169358563

G

AAAGTCCCA

intronic

De novo

-

Trost2022 G

CERS6

11962.p1

chr2:
169417831-169417831

A

G

exonic

De novo

nonsynonymous SNV

NM_001256126
NM_203463

c.A406G
c.A406G

p.M136V
p.M136V

4.524

1.649E-5

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Zhou2022 GE

CERS6

7-0166-003

chr2:
169388908-169388908

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CERS6

133343

chr2:
169551553-169551553

A

C

exonic

nonsynonymous SNV

NM_001256126
NM_203463

c.A601C
c.A601C

p.K201Q
p.K201Q

21.3

-

Woodbury-Smith2022 E

CERS6

MSSNG00256-005

chr2:
169413651-169413651

G

T

intronic

De novo

-

Trost2022 G

CERS6

4-0056-003

chr2:
169587170-169587170

G

A

intronic

De novo

-

Trost2022 G

CERS6

2-1277-003

chr2:
169587175-169587175

A

T

intronic

De novo

-

Trost2022 G

CERS6

7-0429-003

chr2:
169571981-169571981

C

T

intronic

De novo

-

Trost2022 G

CERS6

1-0079-003

chr2:
169599113-169599113

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CERS6

4-0062-003

chr2:
169578497-169578497

T

TTC

intronic

De novo

-

Trost2022 G

CERS6

SSC03560

chr2:
169417831-169417831

A

G

exonic

De novo

nonsynonymous SNV

NM_001256126
NM_203463

c.A406G
c.A406G

p.M136V
p.M136V

4.524

1.649E-5

Fu2022 E
Lim2017 E
Trost2022 G

CERS6

7-0240-005

chr2:
169557593-169557593

C

T

intronic

De novo

-

Trost2022 G

CERS6

7-0189-003

chr2:
169564156-169564156

T

C

intronic

De novo

-

Trost2022 G

CERS6

2-1075-003

chr2:
169546855-169546855

T

G

intronic

De novo

-

Trost2022 G

CERS6

MSSNG00218-003

chr2:
169553375-169553375

T

C

intronic

De novo

-

Trost2022 G

CERS6

1-0173-004

chr2:
169388362-169388362

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CERS6

2-0158-003

chr2:
169515534-169515534

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CERS6

10C102633A

chr2:
169626279-169626285

AATTAAG

A

UTR3

De novo

-

Neale2012 E

CERS6

2-0158-003

chr2:
169478317-169478317

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CERS6

08C72791

chr2:
169547610-169547610

T

C

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

CERS6

MSSNG00443-003

chr2:
169607301-169607301

T

C

intronic

De novo

-

Trost2022 G

CERS6

3-0497-001

chr2:
169588249-169588251

TGG

GT

intronic

De novo

-

Trost2022 G

CERS6

AU2508301

chr2:
169607289-169607289

C

A

intronic

De novo

-

Trost2022 G

CERS6

7-0100-003

chr2:
169425180-169425180

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CERS6

5-0055-004

chr2:
169370487-169370487

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CERS6

5-0138-003

chr2:
169561159-169561159

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CERS6

SP0066215

chr2:
169312884-169312884

G

C

UTR5

De novo

-

Fu2022 E

CERS6

AU078503

chr2:
169388532-169388532

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CERS6

7-0168-003

chr2:
169529145-169529145

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CERS6

1-0998-003

chr2:
169543297-169543297

G

A

intronic

De novo

-

Yuen2017 G

CERS6

AU050403

chr2:
169423600-169423600

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CERS6

1-0558-003

chr2:
169363546-169363561

CTGTGTGTGTGTGTGT

CTGTGTGTGTGTGT

intronic

De novo

-

Yuen2017 G

CERS6

2-0149-003

chr2:
169434278-169434278

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CERS6

AU2123301

chr2:
169345112-169345112

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CERS6

REACH000724

chr2:
169316835-169316835

G

A

intronic

De novo

-

Trost2022 G

CERS6

14-613

chr2:
169356027-169356027

G

A

intronic

De novo

-

Trost2022 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
	More