Variant Results

or

Results for "GCFC2"

Variant Events: 62

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

GCFC2

AU008505

chr2:
76828494-76828494

C

T

intergenic

De novo

-

Yuen2017 G

GCFC2

AU034904

chr2:
76493028-76493028

T

C

intergenic

De novo

-

Yuen2017 G

GCFC2

2-0003-004

chr2:
76305570-76305570

G

A

intergenic

De novo

-

Yuen2017 G

GCFC2

1-0590-003

chr2:
76813497-76813497

C

G

intergenic

De novo

-

Yuen2017 G

GCFC2

1-0382-004

chr2:
76866660-76866660

T

C

intergenic

De novo

-

Yuen2017 G

GCFC2

1-0323-004

chr2:
76114164-76114164

A

ACAAAAC

intergenic

De novo

-

Yuen2017 G

GCFC2

2-0323-004

chr2:
76593173-76593173

T

TTCC

intergenic

De novo

-

Yuen2017 G

GCFC2

2-1155-003

chr2:
76060265-76060265

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GCFC2

1-0458-004

chr2:
76593173-76593173

T

TTCC

intergenic

De novo

-

Yuen2017 G

GCFC2

1-0563-004

chr2:
76071763-76071763

C

CTTTTG

intergenic

De novo

-

Yuen2017 G

GCFC2

AU3903302

chr2:
76482629-76482629

C

T

intergenic

De novo

-

Yuen2017 G

GCFC2

AU2975302

chr2:
76558710-76558716

CAAAAAA

CAAAAAAA

intergenic

De novo

-

Yuen2017 G

GCFC2

2-1302-003

chr2:
75942220-75942220

A

G

intergenic

De novo

-

Yuen2017 G

GCFC2

2-1645-003

chr2:
76932029-76932029

C

T

intergenic

De novo

-

Yuen2017 G

GCFC2

2-1721-003

chr2:
76822117-76822117

C

T

intergenic

De novo

-

Yuen2017 G

GCFC2

1-0382-003

chr2:
75912038-75912038

T

TG

intronic

De novo

-

Yuen2017 G

GCFC2

2-1398-003

chr2:
76324961-76324961

T

C

intergenic

De novo

-

Yuen2017 G

GCFC2

1-0465-003

chr2:
76579980-76579980

T

C

intergenic

De novo

-

Yuen2017 G

GCFC2

1-0162-004

chr2:
76204465-76204465

G

T

intergenic

De novo

-

Yuen2017 G

GCFC2

3-0391-000

chr2:
76453174-76453174

A

G

intergenic

De novo

-

Yuen2017 G

GCFC2

1-0469-003

chr2:
76076207-76076207

T

G

intergenic

De novo

-

Yuen2017 G

GCFC2

11939.p1

chr2:
75904421-75904421

T

C

intronic

Unknown

-

Werling2018 G

GCFC2

2-1370-003

chr2:
76709465-76709465

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GCFC2

2-1066-003

chr2:
75912038-75912038

T

TG

intronic

De novo

-

Yuen2017 G

GCFC2

AU072505

chr2:
76387993-76387993

T

G

intergenic

De novo

-

Yuen2017 G

GCFC2

AU4463303

chr2:
75966018-75966018

C

T

intergenic

De novo

-

Yuen2017 G

GCFC2

AU3190305

chr2:
76086580-76086580

T

C

intergenic

De novo

-

Yuen2017 G

GCFC2

1-0253-005

chr2:
75952598-75952598

G

T

intergenic

De novo

-

Yuen2017 G

GCFC2

AU4067301

chr2:
76314144-76314147

GTTT

GT

intergenic

De novo

-

Yuen2017 G

GCFC2

iHART1128

chr2:
75928378-75928382

CCTGA

C

exonic

Paternal

frameshift deletion

NM_001201334
NM_003203

c.144_147del
c.651_654del

p.S48fs
p.S217fs

-

2.489E-5

Ruzzo2019 G

GCFC2

1-0329-004

chr2:
75960650-75960650

C

T

intergenic

De novo

-

Yuen2017 G

GCFC2

1-0259-005

chr2:
76758252-76758252

G

A

intergenic

De novo

-

Yuen2017 G

GCFC2

1-0874-003

chr2:
76931984-76931984

T

C

intergenic

De novo

-

Yuen2017 G

GCFC2

7-0032-003

chr2:
76209196-76209196

G

A

intergenic

De novo

-

Yuen2017 G

GCFC2

7-0160-003

chr2:
76806966-76806966

A

G

intergenic

De novo

-

Yuen2017 G

GCFC2

AU4269301

chr2:
76041591-76041591

A

G

intergenic

De novo

-

Yuen2017 G

GCFC2

2-1143-003

chr2:
76935771-76935771

T

C

intergenic

De novo

-

Yuen2017 G

GCFC2

AU3811301

chr2:
76698162-76698162

T

G

intergenic

De novo

-

Yuen2017 G

GCFC2

5-0065-003

chr2:
76006398-76006398

C

G

intergenic

De novo

-

Yuen2017 G

GCFC2

7-0097-003

chr2:
76715428-76715428

A

G

intergenic

De novo

-

Yuen2017 G

GCFC2

AU3729301

chr2:
75955972-75955972

G

C

intergenic

De novo

-

Yuen2017 G

GCFC2

AU073003

chr2:
76299071-76299089

AATAGTAGTGTCTTATAGT

AATAGT

intergenic

De novo

-

Yuen2017 G

GCFC2

1-1004-003

chr2:
75922884-75922884

C

T

intronic

De novo

-

Yuen2017 G

GCFC2

7-0080-003

chr2:
76671861-76671861

T

C

intergenic

De novo

-

Yuen2017 G

GCFC2

2-0272-003

chr2:
76886332-76886332

A

G

intergenic

De novo

-

Yuen2017 G

GCFC2

1-0028-003

chr2:
76106068-76106068

C

T

intergenic

De novo

-

Yuen2017 G

GCFC2

1-0296-004

chr2:
76594797-76594797

A

G

intergenic

De novo

-

Yuen2017 G

GCFC2

5-0128-003

chr2:
76352692-76352692

C

A

intergenic

De novo

-

Yuen2017 G

GCFC2

7-0273-003

chr2:
76579523-76579523

C

T

intergenic

De novo

-

Yuen2017 G

GCFC2

AU3865301

chr2:
75940857-75940857

A

G

intergenic

De novo

-

Yuen2017 G

GCFC2

1-0512-003

chr2:
76930633-76930633

T

G

intergenic

De novo

-

Yuen2017 G

GCFC2

7-0256-003

chr2:
76901878-76901878

G

T

intergenic

De novo

-

Yuen2017 G

GCFC2

13942.p1

chr2:
76914418-76914418

T

G

intergenic

De novo

-

Turner2016 G

GCFC2

7-0024-003

chr2:
76703112-76703112

A

G

intergenic

De novo

-

Yuen2017 G

GCFC2

AU3777302

chr2:
76045041-76045041

A

T

intergenic

De novo

-

Yuen2017 G

GCFC2

2-0264-004

chr2:
76243911-76243911

T

C

intergenic

De novo

-

Yuen2017 G

GCFC2

7-0249-004

chr2:
76457196-76457196

A

G

intergenic

De novo

-

Yuen2017 G

GCFC2

1-0329-003

chr2:
75960650-75960650

C

T

intergenic

De novo

-

Yuen2017 G

GCFC2

1-0465-003a

chr2:
76579980-76579980

T

C

intergenic

De novo

-

Yuen2017 G

GCFC2

1-0572-003

chr2:
76067200-76067200

C

T

intergenic

De novo

-

Yuen2017 G

GCFC2

AU056005

chr2:
76412209-76412209

G

A

intergenic

De novo

-

Yuen2017 G

GCFC2

AU3905302

chr2:
76556414-76556414

C

T

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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