Variant Results

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Results for "DTHD1"

Variant Events: 13

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

DTHD1

AU3124302

chr4:
36385953-36385953

G

C

intergenic

De novo

-

-

Yuen2017 G

DTHD1

AU3124302

chr4:
36386578-36386578

G

A

intergenic

De novo

-

-

Yuen2017 G

DTHD1

Cukier2014:37232

chr4:
36340755-36340755

C

A

exonic

Unknown

nonsynonymous SNV

NM_001136536
NM_001170700

c.C1492A
c.C1987A

p.P498T
p.P663T

20.1

Cukier2014 E

DTHD1

1-0320-004

chr4:
36329485-36329485

C

T

intronic

De novo

-

-

Yuen2017 G

DTHD1

1-0092-003

chr4:
36396448-36396448

G

C

intergenic

De novo

-

-

Yuen2017 G

DTHD1

2-1163-003

chr4:
36293612-36293612

A

G

intronic

De novo

-

-

Yuen2017 G

DTHD1

2-1438-003

chr4:
36320487-36320487

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

DTHD1

iHART1685

chr4:
36285809-36285813

TTCTC

T

exonic

Maternal

frameshift deletion

NM_001170700

c.109_112del

p.S37fs

-

-

Ruzzo2019 G

DTHD1

1-0300-004

chr4:
36409605-36409605

T

TG

intergenic

De novo

-

-

Yuen2017 G

DTHD1

2-1250-003

chr4:
36409604-36409604

T

TGTTTTTTTG

intergenic

De novo

-

-

Yuen2017 G

DTHD1

iHART2343

chr4:
36292326-36292326

G

T

splicing

Paternal

splicing

11.0

Ruzzo2019 G

DTHD1

iHART1682

chr4:
36285809-36285813

TTCTC

T

exonic

Maternal

frameshift deletion

NM_001170700

c.109_112del

p.S37fs

-

-

Ruzzo2019 G

DTHD1

SSC00901

chr4:
36317866-36317866

A

G

exonic

De novo

nonsynonymous SNV

NM_001136536
NM_001170700

c.A1228G
c.A1723G

p.N410D
p.N575D

6.538

Lim2017 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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