Variant Results

or

Results for "SYNCRIP"

Variant Events: 16

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

SYNCRIP

11583.p1

chr6:
86324838-86324838

G

GCTCCTCTACCACCCCTTC

exonic

De novo

nonframeshift insertion

NM_001159673
NM_001159675
NM_001159676
NM_001253771
NM_001159674
NM_001159677
NM_006372

c.1213_1214insGAAGGGGTGGTAGAGGAG
c.1402_1403insGAAGGGGTGGTAGAGGAG
c.1507_1508insGAAGGGGTGGTAGAGGAG
c.1051_1052insGAAGGGGTGGTAGAGGAG
c.1402_1403insGAAGGGGTGGTAGAGGAG
c.1507_1508insGAAGGGGTGGTAGAGGAG
c.1507_1508insGAAGGGGTGGTAGAGGAG

p.A405delinsGRGGRGA
p.A468delinsGRGGRGA
p.A503delinsGRGGRGA
p.A351delinsGRGGRGA
p.A468delinsGRGGRGA
p.A503delinsGRGGRGA
p.A503delinsGRGGRGA

-

Krumm2015 E
Zhou2022 GE

SYNCRIP

MSSNG00077-005

chr6:
86318367-86318367

T

A

UTR3

De novo

-

Trost2022 G

SYNCRIP

MSSNG00452-003

chr6:
86322099-86322099

G

C

UTR3

De novo

-

Trost2022 G

SYNCRIP

AU3913301

chr6:
86350505-86350505

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SYNCRIP

14245.p1

chr6:
86325066-86325066

C

T

splicing

De novo

splicing

15.55

-

Wilfert2021 G
Zhou2022 GE

SYNCRIP

SP0084320

chr6:
86351044-86351044

T

C

exonic

De novo

synonymous SNV

NM_001159675
NM_001159676
NM_001159674
NM_001159677
NM_006372

c.A114G
c.A114G
c.A114G
c.A114G
c.A114G

p.K38K
p.K38K
p.K38K
p.K38K
p.K38K

-

8.257E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

SYNCRIP

2-0006-004

chr6:
86331128-86331128

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SYNCRIP

2-0242-003

chr6:
86383105-86383105

G

A

intergenic

De novo

-

Yuen2017 G

SYNCRIP

GX0108.p1

chr6:
86324491-86324492

CA

C

exonic

Unknown

frameshift deletion

NM_001159675
NM_006372

c.1749delT
c.1854delT

p.F583fs
p.F618fs

-

Guo2018 T

SYNCRIP

1-0193-003

chr6:
86334038-86334038

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SYNCRIP

AU2461301

chr6:
86341564-86341564

C

T

intronic

De novo

-

Trost2022 G

SYNCRIP

SP0126501

chr6:
86350284-86350284

T

C

splicing

De novo

splicing

17.21

-

Trost2022 G
Zhou2022 GE

SYNCRIP

SP0064176

chr6:
86332230-86332230

T

TA

exonic

De novo

frameshift insertion

NM_001159673
NM_001159676
NM_001253771
NM_001159677
NM_006372

c.683dupT
c.977dupT
c.521dupT
c.977dupT
c.977dupT

p.I228fs
p.I326fs
p.I174fs
p.I326fs
p.I326fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

SYNCRIP

SSC11115

chr6:
86325066-86325066

C

T

splicing

15.55

-

Antaki2022 GE

SYNCRIP

SP0137868

chr6:
86346855-86346856

CA

C

exonic

De novo

frameshift deletion

NM_001159673
NM_001159675
NM_001159676
NM_001253771
NM_001159674
NM_001159677
NM_006372

c.201delT
c.495delT
c.495delT
c.39delT
c.495delT
c.495delT
c.495delT

p.F67fs
p.F165fs
p.F165fs
p.F13fs
p.F165fs
p.F165fs
p.F165fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

SYNCRIP

5-0050-003

chr6:
86369264-86369264

T

G

intergenic

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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