Variant Results

or

Results for "KLHL12"

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

KLHL12

2-1735-003

chr1:
202896296-202896296

G

C

UTR5

De novo

-

Trost2022 G
Yuen2017 G

KLHL12

AU2231301

chr1:
202864447-202864447

G

A

intronic

De novo

-

Trost2022 G

KLHL12

AU4231301

chr1:
202880658-202880658

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KLHL12

1-1063-003

chr1:
202860662-202860662

G

A

UTR3

De novo

-

Trost2022 G

KLHL12

3-0143-001

chr1:
202880012-202880012

G

A

intronic

De novo

-

Trost2022 G

KLHL12

7-0356-003

chr1:
202864531-202864531

T

C

intronic

De novo

-

Trost2022 G

KLHL12

DEASD_2071_001

chr1:
202863417-202863417

G

C

intronic

De novo

-

Fu2022 E

KLHL12

NDAR_INVMN966KXZ_wes1

chr1:
202863873-202863873

C

G

exonic

De novo

nonsynonymous SNV

NM_001303109
NM_001303051
NM_021633

c.G837C
c.G1254C
c.G1140C

p.M279I
p.M418I
p.M380I

16.45

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

KLHL12

7-0392-005

chr1:
202889001-202889001

T

G

exonic

De novo

nonsynonymous SNV

NM_001303051
NM_001303109
NM_021633

c.A345C
c.A231C
c.A231C

p.Q115H
p.Q77H
p.Q77H

14.13

-

Trost2022 G

KLHL12

14678.p1

chr1:
202880289-202880289

C

T

exonic

Mosaic

nonsynonymous SNV

NM_001303051
NM_001303109
NM_021633

c.G724A
c.G610A
c.G610A

p.V242M
p.V204M
p.V204M

33.0

-

Dou2017 E
Krupp2017 E

KLHL12

7-0333-003

chr1:
202883295-202883295

C

G

intronic

De novo

-

Trost2022 G

KLHL12

2-1292-004

chr1:
202903574-202903574

T

TGATCTAATGCA

intergenic

De novo

-

Yuen2017 G

KLHL12

NDAR_INVEP906YBV_wes1

chr1:
202894051-202894051

A

G

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

KLHL12

5-0003-004

chr1:
202880219-202880219

A

G

exonic

De novo

nonsynonymous SNV

NM_001303051
NM_001303109
NM_021633

c.T794C
c.T680C
c.T680C

p.L265P
p.L227P
p.L227P

22.4

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

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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