Variant Results

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or

Results for "AKNA"

Variant Events: 22

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

AKNA

Lim2017:11002

chr9:
117136374-117136374

T

G

exonic

De novo

nonsynonymous SNV

NM_030767

c.A1415C

p.K472T

25.1

-

Lim2017 E

AKNA

TRE_2474

chr9:
117139045-117139046

TG

T

exonic

De novo

frameshift deletion

NM_030767

c.1041delC

p.P347fs

-

-

Fu2022 E

AKNA

1-0826-003

chr9:
117152373-117152373

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

AKNA

mAGRE2764

chr9:
117103929-117103930

CG

C

exonic

Paternal

frameshift deletion

NM_030767

c.3950delC

p.S1317fs

-

-

Cirnigliaro2023 G

AKNA

MCD-016-3

chr9:
117118301-117118301

G

A

exonic

Paternal

nonsynonymous SNV

NM_030767

c.C2962T

p.R988W

13.26

Tuncay2023 G

AKNA

mAGRE2763

chr9:
117103929-117103930

CG

C

exonic

Paternal

frameshift deletion

NM_030767

c.3950delC

p.S1317fs

-

-

Cirnigliaro2023 G

AKNA

Wang2023:36

chr9:
117139558-117139558

G

T

exonic

De novo

nonsynonymous SNV

NM_030767

c.C529A

p.Q177K

15.52

Wang2023 E

AKNA

iHART2764

chr9:
117103929-117103930

CG

C

exonic

Paternal

frameshift deletion

NM_030767

c.3950delC

p.S1317fs

-

-

Ruzzo2019 G

AKNA

MCD-016-3

chr9:
117103867-117103867

G

A

exonic

Maternal

nonsynonymous SNV

NM_030767

c.C4013T

p.P1338L

17.43

Tuncay2023 G

AKNA

1-0214-003

Complex Event; expand row to view variants

De novo

nonframeshift deletion

NM_030767
NM_030767

c.2350_2352del
c.2364_2366del

p.784_784del
p.788_789del

-

Yuen2017 G
Zhou2022 GE

AKNA

iHART2763

chr9:
117103929-117103930

CG

C

exonic

Paternal

frameshift deletion

NM_030767

c.3950delC

p.S1317fs

-

-

Ruzzo2019 G

AKNA

68544

chr9:
117103870-117103870

G

A

exonic

De novo

nonsynonymous SNV

NM_030767

c.C4010T

p.P1337L

13.59

Fu2022 E
Trost2022 G

AKNA

Kim2020:A12

chr9:
117104343-117104343

A

T

exonic

De novo

nonsynonymous SNV

NM_030767

c.T3820A

p.C1274S

15.91

-

Kim2020 E

AKNA

11002

chr9:
117136374-117136374

T

G

exonic

De novo

nonsynonymous SNV

NM_030767

c.A1415C

p.K472T

25.1

-

Fu2022 E

AKNA

11215.p1

chr9:
117103870-117103870

G

A

exonic

De novo

nonsynonymous SNV

NM_030767

c.C4010T

p.P1337L

13.59

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

AKNA

SP0056278

chr9:
117122305-117122305

C

T

exonic

De novo

nonsynonymous SNV

NM_030767

c.G2162A

p.C721Y

0.762

-

Fu2022 E
Trost2022 G
Zhou2022 GE

AKNA

7-0273-003

chr9:
117096071-117096071

T

C

downstream

De novo

-

-

Yuen2017 G

AKNA

5-0097-003

chr9:
117130211-117130211

G

A

intronic

De novo

-

-

Trost2022 G

AKNA

MSSNG00105-004

chr9:
117111281-117111281

G

A

intronic

De novo

-

-

Trost2022 G

AKNA

1-1034-003

chr9:
117112583-117112583

C

T

intronic

De novo

-

-

Trost2022 G

AKNA

MSSNG00335-003

chr9:
117109213-117109213

T

G

intronic

De novo

-

-

Trost2022 G

AKNA

1-0225-003

chr9:
117096156-117096156

T

A

downstream

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
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