Variant Results

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Results for "FER1L6"

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

FER1L6

AU025704

chr8:
124866846-124866846

G

A

intronic

De novo

-

-

Yuen2017 G

FER1L6

SP0001491

chr8:
125094635-125094635

G

A

exonic

De novo

nonsynonymous SNV

NM_001039112

c.G4327A

p.D1443N

35.0

Feliciano2019 E

FER1L6

AU3861303

chr8:
124866442-124866442

T

C

intronic

De novo

-

-

Yuen2017 G

FER1L6

AU3761302

chr8:
124877398-124877398

C

T

intronic

De novo

-

-

Yuen2017 G

FER1L6

1-0458-003

chr8:
124938011-124938011

C

T

intronic

De novo

-

-

Yuen2017 G

FER1L6

2-1738-003

chr8:
124965120-124965120

C

T

intronic

De novo

-

-

Yuen2017 G

FER1L6

1-0446-003

chr8:
124946119-124946123

CAAGA

C

intronic

De novo

-

-

Yuen2017 G

FER1L6

SP0019454

chr8:
125072486-125072486

G

A

exonic

De novo

synonymous SNV

NM_001039112

c.G2940A

p.P980P

-

Feliciano2019 E

FER1L6

iHART2070

chr8:
125081650-125081654

GAAGA

G

exonic

Paternal

frameshift deletion

NM_001039112

c.3769_3772del

p.K1257fs

-

Ruzzo2019 G

FER1L6

iHART2072

chr8:
125081650-125081654

GAAGA

G

exonic

Paternal

frameshift deletion

NM_001039112

c.3769_3772del

p.K1257fs

-

Ruzzo2019 G

FER1L6

iHART1820

chr8:
125113581-125113581

T

C

splicing

Paternal

splicing

21.0

Ruzzo2019 G

FER1L6

iHART3275

chr8:
124989660-124989660

C

T

exonic

Paternal

stopgain

NM_001039112

c.C874T

p.R292X

38.0

Ruzzo2019 G

FER1L6

AU072504

chr8:
124894518-124894518

C

G

intronic

De novo

-

-

Yuen2017 G

FER1L6

iHART2071

chr8:
125081650-125081654

GAAGA

G

exonic

Paternal

frameshift deletion

NM_001039112

c.3769_3772del

p.K1257fs

-

Ruzzo2019 G

FER1L6

iHART1312

chr8:
124989818-124989819

GA

G

exonic

Paternal

frameshift deletion

NM_001039112

c.1033delA

p.K345fs

-

Ruzzo2019 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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