Variant Results

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Results for "CLIP1"

Variant Events: 11

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

CLIP1

2-0310-004

chr12:
122769744-122769744

C

T

intronic

De novo

-

-

Yuen2017 G

CLIP1

Cukier2014:7590

chr12:
122825398-122825398

C

T

exonic

Unknown

nonsynonymous SNV

NM_198240
NM_002956
NM_001247997

c.G2215A
c.G2320A
c.G2353A

p.E739K
p.E774K
p.E785K

26.0

Cukier2014 E

CLIP1

12327.p1

chr12:
122825545-122825545

G

T

exonic

Mosaic

nonsynonymous SNV

NM_198240
NM_002956
NM_001247997

c.C2068A
c.C2173A
c.C2206A

p.Q690K
p.Q725K
p.Q736K

19.81

-

Dou2017 E

CLIP1

PN400266

chr12:
122812690-122812690

C

CT

exonic

Unknown

frameshift insertion

NM_198240
NM_002956
NM_001247997

c.2914dupA
c.3019dupA
c.3052dupA

p.S972fs
p.S1007fs
p.S1018fs

-

Leblond2019 E

CLIP1

2-1173-003

chr12:
122895504-122895504

G

C

intronic

De novo

-

-

Yuen2017 G

CLIP1

13171.p1

chr12:
122889146-122889146

G

C

intronic

De novo

-

-

Turner2016 G

CLIP1

iHART1157

chr12:
122825299-122825299

C

A

splicing

Maternal

splicing

22.0

Ruzzo2019 G

CLIP1

11572.p1

chr12:
122946421-122946421

A

T

intergenic

De novo

-

-

Turner2016 G

CLIP1

AU2333302

chr12:
122943372-122943372

A

G

intergenic

De novo

-

-

Yuen2017 G

CLIP1

1-0092-004

chr12:
122857496-122857496

G

A

intronic

De novo

-

-

Yuen2017 G

CLIP1

09C99711

chr12:
122812695-122812699

TTCCA

T

exonic

De novo

frameshift deletion

NM_198240
NM_002956
NM_001247997

c.2906_2909del
c.3011_3014del
c.3044_3047del

p.M969fs
p.M1004fs
p.M1015fs

-

Satterstrom2020 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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