Variant Results

or

Results for "DLX3"

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

DLX3

1-0067-005

chr17:
48118643-48118643

G

A

intergenic

De novo

-

Yuen2017 G

DLX3

1-0259-005

chr17:
48118643-48118643

G

A

intergenic

De novo

-

Yuen2017 G

DLX3

SSC08982

chr17:
48069119-48069119

G

A

exonic

De novo

nonsynonymous SNV

NM_005220

c.C626T

p.S209L

24.3

-

Lim2017 E

DLX3

1-0541-003

chr17:
48118647-48118648

AT

A

intergenic

De novo

-

Yuen2017 G

DLX3

1-0144-004

chr17:
48113707-48113707

G

A

intergenic

De novo

-

Yuen2017 G

DLX3

AU4410302

chr17:
48087276-48087277

AC

ACC

intergenic

De novo

-

Yuen2017 G

DLX3

86873593

chr17:
48070876-48070876

A

C

exonic

Unknown

nonsynonymous SNV

NM_005220

c.T404G

p.I135S

23.1

-

Wang2020 T
Wang2020 T

DLX3

EGAN00001101388

chr17:
48069091-48069091

G

A

exonic

De novo

synonymous SNV

NM_005220

c.C654T

p.T218T

-

3.3E-5

Satterstrom2020 E

DLX3

AU043804

chr17:
48087796-48087796

T

C

intergenic

De novo

-

Yuen2017 G

DLX3

U2P6F

chr17:
48069174-48069174

C

T

exonic

Unknown

nonsynonymous SNV

NM_005220

c.G571A

p.G191R

21.7

8.248E-6

Wang2020 T
Wang2020 T

DLX3

2-1355-004

chr17:
48125842-48125842

G

A

intergenic

De novo

-

Yuen2017 G

DLX3

13782.p1

chr17:
48069119-48069119

G

A

exonic

De novo

nonsynonymous SNV

NM_005220

c.C626T

p.S209L

24.3

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T

DLX3

11407.p1

chr17:
48072206-48072206

C

T

exonic

De novo

nonsynonymous SNV

NM_005220

c.G157A

p.G53S

9.807

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 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
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