Variant Results

or

Results for "A1CF"

Variant Events: 14

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

A1CF

2-1510-003

chr10:
52599253-52599253

T

A

intronic

De novo

-

Yuen2017 G

A1CF

A12

chr10:
52592235-52592235

T

TTCTT

intronic

De novo

-

Wu2018 G

A1CF

F5249-1

chr10:
52580352-52580352

C

T

exonic

De novo

nonsynonymous SNV

NM_014576
NM_138932
NM_138933
NM_001198818
NM_001198820
NM_001198819

c.G827A
c.G827A
c.G851A
c.G827A
c.G851A
c.G851A

p.R276Q
p.R276Q
p.R284Q
p.R276Q
p.R284Q
p.R284Q

35.0

8.275E-6

Montenegro2019 E

A1CF

1-0303-004

chr10:
52586216-52586216

G

A

intronic

De novo

-

Yuen2017 G

A1CF

1-0203-004

chr10:
52681217-52681217

C

G

intergenic

De novo

-

Yuen2017 G

A1CF

2-1174-006

chr10:
52586216-52586216

G

A

intronic

De novo

-

Yuen2017 G

A1CF

2-1261-004

chr10:
52586216-52586216

G

A

intronic

De novo

-

Yuen2017 G

A1CF

1-0274-004

chr10:
52596724-52596724

C

T

intronic

De novo

-

Yuen2017 G

A1CF

AU2100302

chr10:
52589518-52589518

T

G

intronic

De novo

-

Yuen2017 G

A1CF

1-0274-003

chr10:
52596724-52596724

C

T

intronic

De novo

-

Yuen2017 G

A1CF

2-0296-004

chr10:
52574533-52574533

T

G

intronic

De novo

-

Yuen2017 G

A1CF

2-1174-005B

chr10:
52586216-52586216

G

A

intronic

De novo

-

Yuen2017 G

A1CF

2-1620-004

chr10:
52687889-52687889

T

TCC

intergenic

De novo

-

Yuen2017 G

A1CF

iHART1848

chr10:
52580383-52580383

G

A

exonic

Paternal

stopgain

NM_014576
NM_138932
NM_138933
NM_001198818
NM_001198820
NM_001198819

c.C796T
c.C796T
c.C820T
c.C796T
c.C820T
c.C820T

p.R266X
p.R266X
p.R274X
p.R266X
p.R274X
p.R274X

37.0

8.277E-6

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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