Variant Results

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Results for "ANKS6"

Variant Events: 15

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

ANKS6

AU2756306

chr9:
101523643-101523643

T

C

intronic

De novo

-

-

Yuen2017 G

ANKS6

AU4007302

chr9:
101517513-101517513

C

T

intronic

De novo

-

-

Yuen2017 G

ANKS6

74-0117

chr9:
101556845-101556845

G

A

intronic

De novo

-

-

Michaelson2012 G

ANKS6

AU011704

chr9:
101556845-101556845

G

A

intronic

De novo

-

-

Yuen2017 G

ANKS6

AU3635301

chr9:
101533610-101533610

A

T

intronic

De novo

-

-

Yuen2017 G

ANKS6

SP0065721

chr9:
101497161-101497161

C

G

UTR3

De novo

-

-

Fu2022 E

ANKS6

SP0108725

chr9:
101507934-101507934

T

C

exonic

De novo

synonymous SNV

NM_173551

c.A2418G

p.T806T

8.842

-

Fu2022 E

ANKS6

SP0034921

chr9:
101558384-101558384

G

A

intronic

De novo

-

-

Fu2022 E

ANKS6

2-0043-003

chr9:
101530828-101530828

C

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

ANKS6

AU3506302

chr9:
101554950-101554950

G

A

intronic

De novo

-

-

Yuen2017 G

ANKS6

SP0079350

chr9:
101558789-101558789

C

G

UTR5

De novo

-

-

Fu2022 E

ANKS6

AU073003

chr9:
101512494-101512494

G

A

intronic

De novo

-

-

Yuen2017 G

ANKS6

13080.p1

chr9:
101540675-101540675

C

T

exonic

De novo

nonsynonymous SNV

NM_173551

c.G1400A

p.R467Q

35.0

Satterstrom2020 E
Turner2017 G
Wilfert2021 G

ANKS6

SP0152513

chr9:
101552401-101552401

C

T

exonic

De novo

nonsynonymous SNV

NM_173551

c.G847A

p.V283I

12.42

Fu2022 E

ANKS6

SP0054736

chr9:
101539703-101539703

G

T

exonic

De novo

nonsynonymous SNV

NM_173551

c.C1601A

p.T534K

9.067

-

Feliciano2019 E
Fu2022 E

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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