Variant Results

or

or

Results for "LMX1B"

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

LMX1B

AU3634301

chr9:
129386435-129386435

T

C

intronic

De novo

-

-

Yuen2017 G

LMX1B

2-0289-003

chr9:
129473839-129473839

C

G

intergenic

De novo

-

-

Yuen2017 G

LMX1B

3-0096-000

chr9:
129458577-129458577

C

T

exonic

De novo

synonymous SNV

NM_001174146
NM_001174147
NM_002316

c.C1068T
c.C1056T
c.C1035T

p.N356N
p.N352N
p.N345N

-

Tammimies2015 E

LMX1B

2-1235-004

chr9:
129529175-129529175

C

T

intergenic

De novo

-

-

Yuen2017 G

LMX1B

SP0011392

chr9:
129453241-129453241

C

T

exonic

De novo

synonymous SNV

NM_001174146
NM_001174147
NM_002316

c.C453T
c.C453T
c.C453T

p.R151R
p.R151R
p.R151R

-

-

Fu2022 E

LMX1B

2-0289-004

chr9:
129433132-129433132

G

A

intronic

De novo

-

-

Yuen2017 G

LMX1B

AU3861302

chr9:
129433771-129433771

G

A

intronic

De novo

-

-

Yuen2017 G

LMX1B

AU072504

chr9:
129528707-129528707

G

T

intergenic

De novo

-

-

Yuen2017 G

LMX1B

SP0020631

chr9:
129458062-129458062

G

A

intronic

De novo

-

-

Fu2022 E

LMX1B

14496.p1

chr9:
129523616-129523616

G

A

intergenic

De novo

-

-

Turner2016 G

LMX1B

SP0048721

chr9:
129458064-129458064

G

A

intronic

De novo

-

-

Fu2022 E

LMX1B

SP0059838

chr9:
129377613-129377613

G

A

intronic

De novo

-

-

Fu2022 E

LMX1B

7-0082-003

chr9:
129520525-129520525

C

T

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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