Variant Results

or

Results for "DNAAF1"

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

DNAAF1

Cukier2014:17351

chr16:
84211403-84211403

C

G

exonic

Unknown

nonsynonymous SNV

NM_178452

c.C2134G

p.P712A

0.011

0.002

Cukier2014 E

DNAAF1

12057.p1

chr16:
84193294-84193294

G

C

exonic

De novo

nonsynonymous SNV

NM_178452

c.G756C

p.L252F

18.36

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

DNAAF1

2-1415-004

chr16:
84182774-84182778

CACAT

C

intronic

De novo

-

1.647E-5

Trost2022 G
Yuen2017 G

DNAAF1

AU054303

chr16:
84197108-84197108

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAAF1

SP0148220

chr16:
84199570-84199570

G

T

intronic

De novo

-

Trost2022 G

DNAAF1

MT_166.3

chr16:
84208853-84208853

A

G

intronic

De novo

-

Trost2022 G

DNAAF1

3-0504-000

chr16:
84194119-84194119

G

A

intronic

De novo

-

Trost2022 G

DNAAF1

5-0009-003

chr16:
84196480-84196480

G

A

intronic

De novo

-

Trost2022 G

DNAAF1

SP0004009

chr16:
84206808-84206808

G

A

intronic

De novo

-

Fu2022 E

DNAAF1

mAGRE1025

chr16:
84208329-84208329

G

A

splicing

Maternal

splicing

7.625

3.0E-4

Cirnigliaro2023 G

DNAAF1

2-0300-003

chr16:
84206835-84206835

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAAF1

SP0126225

chr16:
84211339-84211339

G

A

exonic

De novo

synonymous SNV

NM_178452

c.G2070A

p.P690P

-

1.652E-5

Trost2022 G
Trost2022 G

DNAAF1

SSC03346

chr16:
84193294-84193294

G

C

exonic

De novo

nonsynonymous SNV

NM_178452

c.G756C

p.L252F

18.36

-

Fu2022 E
Lim2017 E
Trost2022 G

DNAAF1

7-0191-003

chr16:
84201808-84201808

G

A

intronic

De novo

-

Trost2022 G
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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