Variant Results

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Results for "KLHDC7A"

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

KLHDC7A

iHART1704

chr1:
18809147-18809147

C

G

exonic

De novo

nonsynonymous SNV

NM_152375

c.C1672G

p.R558G

17.35

-

Ruzzo2019 G

KLHDC7A

2-1509-003

chr1:
18831510-18831526

TGAGAGAGAGAGAGAGA

TGAGAGAGAGAGAGA

intergenic

De novo

-

-

Yuen2017 G

KLHDC7A

DEASD_0148_001

chr1:
18809822-18809822

T

G

UTR3

De novo

-

-

Kosmicki2017 E
Satterstrom2020 E

KLHDC7A

AU2035301

chr1:
18918950-18918950

T

C

intergenic

De novo

-

-

Yuen2017 G

KLHDC7A

1-0978-003

chr1:
18880699-18880699

T

C

intergenic

De novo

-

-

Yuen2017 G

KLHDC7A

DEASD_2056_001

chr1:
18808047-18808047

G

A

exonic

De novo

nonsynonymous SNV

NM_152375

c.G572A

p.S191N

12.71

-

Fu2022 E

KLHDC7A

1-0273-004

chr1:
18943955-18943955

C

T

intergenic

De novo

-

-

Yuen2017 G

KLHDC7A

1-0450-003

chr1:
18807481-18807481

C

T

exonic

De novo

synonymous SNV

NM_152375

c.C6T

p.F2F

-

-

Yuen2017 G

KLHDC7A

5-0077-004

chr1:
18827338-18827338

G

A

intergenic

De novo

-

-

Yuen2017 G

KLHDC7A

AU2035302

chr1:
18918950-18918950

T

C

intergenic

De novo

-

-

Yuen2017 G

KLHDC7A

2-0285-003

chr1:
18816488-18816488

G

C

intergenic

De novo

-

-

Yuen2017 G

KLHDC7A

AU1404301

chr1:
18915561-18915561

G

A

intergenic

De novo

-

-

Yuen2017 G

KLHDC7A

SP0068938

chr1:
18809034-18809034

C

T

exonic

De novo

nonsynonymous SNV

NM_152375

c.C1559T

p.P520L

3.745

-

Fu2022 E

KLHDC7A

11069.p1

chr1:
18839782-18839782

C

T

intergenic

Mosaic

-

-

Dou2017 E

KLHDC7A

AU059903

chr1:
18819501-18819516

TGAGAGAGAGAGAGAG

TGAGAGAGAGAGAG

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
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