Variant Results

or

or

Results for "DNAAF5"

Variant Events: 31

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

DNAAF5

GEA382

chr7:
825229-825229

G

A

exonic

De novo

nonsynonymous SNV

NM_017802

c.G2507A

p.R836H

24.0

Fu2022 E

DNAAF5

2-1379-003

chr7:
791945-791945

T

C

intronic

De novo

-

-

Trost2022 G

DNAAF5

AU4235302

chr7:
791945-791945

T

C

intronic

De novo

-

-

Trost2022 G

DNAAF5

MSSNG00417-003

chr7:
775657-775657

G

A

intronic

De novo

-

-

Trost2022 G

DNAAF5

2-1286-003

chr7:
785316-785316

A

ACATATACACATCTGCACACC

intronic

De novo

-

-

Trost2022 G

DNAAF5

AU1698302

chr7:
843349-843349

T

C

intergenic

De novo

-

-

Yuen2017 G

DNAAF5

SP0054424

chr7:
766866-766866

C

T

exonic

De novo

nonsynonymous SNV

NM_017802

c.C509T

p.A170V

8.233

-

Fu2022 E
Trost2022 G
Trost2022 G
Zhou2022 GE

DNAAF5

AU1698302

chr7:
843362-843362

C

T

intergenic

De novo

-

-

Yuen2017 G

DNAAF5

iHART2816

chr7:
819696-819696

C

G

exonic

Maternal

stopgain

NM_017802

c.C2346G

p.Y782X

28.5

-

Ruzzo2019 G

DNAAF5

AU2140306

chr7:
819696-819696

C

G

exonic

Maternal

stopgain

NM_017802

c.C2346G

p.Y782X

28.5

-

Cirnigliaro2023 G

DNAAF5

MSSNG00435-003

chr7:
792273-792273

T

G

intronic

De novo

-

-

Trost2022 G

DNAAF5

2-1632-003

chr7:
802601-802601

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DNAAF5

MT_166.3

chr7:
793419-793419

C

G

intronic

De novo

-

-

Trost2022 G

DNAAF5

2-1644-004

chr7:
811421-811421

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DNAAF5

REACH000293

chr7:
792250-792250

G

A

intronic

De novo

-

-

Trost2022 G

DNAAF5

REACH000293

chr7:
792252-792252

A

G

intronic

De novo

-

-

Trost2022 G

DNAAF5

AU4235303

chr7:
791964-791964

T

C

intronic

De novo

-

-

Trost2022 G

DNAAF5

MSSNG00435-003

chr7:
792250-792250

G

A

intronic

De novo

-

-

Trost2022 G

DNAAF5

AU4235303

chr7:
791945-791945

T

C

intronic

De novo

-

-

Trost2022 G

DNAAF5

2-1379-003

chr7:
791964-791964

T

C

intronic

De novo

-

-

Trost2022 G

DNAAF5

REACH000705

chr7:
822262-822262

A

C

intronic

De novo

-

-

Trost2022 G

DNAAF5

7-0298-004

chr7:
823992-823992

C

A

intronic

De novo

-

-

Trost2022 G

DNAAF5

1-1122-003

chr7:
821492-821492

T

G

intronic

De novo

-

-

Trost2022 G

DNAAF5

3-0548-000

chr7:
821808-821808

G

T

intronic

De novo

-

-

Trost2022 G

DNAAF5

JASD_Fam0096

chr7:
801482-801482

C

T

exonic

De novo

synonymous SNV

NM_017802

c.C1563T

p.D521D

0.69

Takata2018 E

DNAAF5

3-0183-000

chr7:
798206-798206

C

T

intronic

De novo

-

-

Trost2022 G

DNAAF5

MSSNG00084-003

chr7:
819095-819095

T

G

intronic

De novo

-

-

Trost2022 G

DNAAF5

Cukier2014:17122

chr7:
803506-803506

C

T

exonic

Unknown

nonsynonymous SNV

NM_017802

c.C1678T

p.R560C

12.31

Cukier2014 E

DNAAF5

13874.p1

chr7:
788520-788520

T

C

intronic

De novo

-

-

Turner2016 G

DNAAF5

13023.p1

chr7:
810767-810767

C

G

intronic

De novo

-

-

Turner2016 G

DNAAF5

2-1350-003

chr7:
830171-830171

C

G

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
	More