Variant Results

or

or

Results for "XDH"

Variant Events: 17

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

XDH

1-0381-003

chr2:
31658609-31658609

T

C

intergenic

De novo

-

-

Yuen2017 G

XDH

iHART2291

chr2:
31572969-31572969

G

GC

exonic

Paternal

frameshift insertion

NM_000379

c.2751dupG

p.P918fs

-

-

Ruzzo2019 G

XDH

AU3764302

chr2:
31718395-31718395

C

T

intergenic

De novo

-

-

Yuen2017 G

XDH

iHART1739

chr2:
31599935-31599935

G

A

exonic

Unknown

stopgain

NM_000379

c.C1411T

p.Q471X

17.24

-

Ruzzo2019 G

XDH

iHART1347

chr2:
31588919-31588920

CT

C

exonic

Paternal

frameshift deletion

NM_000379

c.2378delA

p.K793fs

-

-

Ruzzo2019 G

XDH

1-0339-003

chr2:
31747224-31747228

TTCTC

T

intergenic

De novo

-

-

Yuen2017 G

XDH

2-1222-003

chr2:
31733371-31733371

A

G

intergenic

De novo

-

-

Yuen2017 G

XDH

2-1718-003

chr2:
31695844-31695844

C

T

intergenic

De novo

-

-

Yuen2017 G

XDH

2-1220-003

chr2:
31582107-31582107

A

T

intronic

De novo

-

-

Yuen2017 G

XDH

63-343

chr2:
31735492-31735492

G

T

intergenic

Inherited

-

-

Michaelson2012 G

XDH

2-1497-003

chr2:
31618871-31618871

G

T

intronic

De novo

-

-

Yuen2017 G

XDH

AU4015303

chr2:
31573124-31573124

T

G

intronic

De novo

-

-

Yuen2017 G

XDH

AU4054301

chr2:
31692011-31692011

G

A

intergenic

De novo

-

-

Yuen2017 G

XDH

1-0513-003

chr2:
31647610-31647610

T

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

XDH

AU4483301

chr2:
31643216-31643216

G

C

intergenic

De novo

-

-

Yuen2017 G

XDH

2-1258-004

chr2:
31688687-31688687

T

C

intergenic

De novo

-

-

Yuen2017 G

XDH

11593.p1

chr2:
31570393-31570393

C

T

exonic

De novo

nonsynonymous SNV

NM_000379

c.G3271A

p.V1091I

9.384

Krumm2015 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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