Variant Results

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Results for "NARF"

Variant Events: 12

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

NARF

086-09-110952

chr17:
80442773-80442773

G

A

exonic

De novo

synonymous SNV

NM_001083608
NM_001038618
NM_012336

c.G774A
c.G741A
c.G918A

p.A258A
p.A247A
p.A306A

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NARF

EGAN00001101337

chr17:
80445752-80445752

G

A

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

NARF

SP0140025

chr17:
80422207-80422207

C

T

exonic

De novo

synonymous SNV

NM_012336

c.C153T

p.S51S

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NARF

2-1425-004

chr17:
80439005-80439005

T

C

exonic

De novo

synonymous SNV

NM_001083608
NM_001038618
NM_012336

c.T543C
c.T510C
c.T687C

p.Y181Y
p.Y170Y
p.Y229Y

-

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

NARF

1-0570-003

chr17:
80466942-80466942

A

T

intergenic

De novo

-

-

Yuen2017 G

NARF

2-0270-004

chr17:
80449804-80449804

G

GTTCTGAAATCAAGGAGAGCAGGTGCCAGGGCTGTC

intergenic

De novo

-

-

Yuen2017 G

NARF

1-0193-003

chr17:
80424168-80424169

CT

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NARF

AU051A

chr17:
80439007-80439007

A

G

exonic

De novo

nonsynonymous SNV

NM_001083608
NM_001038618
NM_012336

c.A545G
c.A512G
c.A689G

p.D182G
p.D171G
p.D230G

12.39

-

Lim2017 E

NARF

Cukier2014:7590

chr17:
80439004-80439004

A

G

exonic

Unknown

nonsynonymous SNV

NM_001083608
NM_001038618
NM_012336

c.A542G
c.A509G
c.A686G

p.Y181C
p.Y170C
p.Y229C

10.17

Cukier2014 E

NARF

2-0160-003

chr17:
80429820-80429820

A

G

intronic

De novo

-

-

Trost2022 G

NARF

1-0552-004

chr17:
80444482-80444482

G

A

intronic

De novo

-

-

Trost2022 G

NARF

REACH000435

chr17:
80420421-80420421

T

C

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
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