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Results for "LMX1B"

Variant Events: 9

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     2-1235-004chr9:
129529175-129529175
CTintergenicDe novo--Yuen2017 G
LMX1B     2-0289-004chr9:
129433132-129433132
GAintronicDe novo--Yuen2017 G
LMX1B     AU3634301chr9:
129386435-129386435
TCintronicDe novo--Yuen2017 G
LMX1B     AU3861302chr9:
129433771-129433771
GAintronicDe novo--Yuen2017 G
LMX1B     2-0289-003chr9:
129473839-129473839
CGintergenicDe novo--Yuen2017 G
LMX1B     3-0096-000chr9:
129458577-129458577
CTexonicDe novosynonymous SNVNM_001174146
NM_001174147
NM_002316
c.C1068T
c.C1056T
c.C1035T
p.N356N
p.N352N
p.N345N
-8.269E-6Tammimies2015 E
LMX1B     AU072504chr9:
129528707-129528707
GTintergenicDe novo--Yuen2017 G
LMX1B     14496.p1chr9:
129523616-129523616
GAintergenicDe novo--Turner2016 G
LMX1B     7-0082-003chr9:
129520525-129520525
CTintergenicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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