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Results for "SLC45A4"

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
SLC45A4     SJD_50chr8:
142228160-142228160
CTexonicPaternalnonsynonymous SNVNM_001080431
NM_001286646
NM_001286648
c.G1426A
c.G1579A
c.G1426A
p.V476M
p.V527M
p.V476M
25.54.316E-5Toma2013 E
SLC45A4     1-0385-003chr8:
142305849-142305851
GGAGintergenicDe novo--Yuen2017 G
SLC45A4     AU2950302chr8:
142335455-142335455
GAintergenicDe novo--Yuen2017 G
SLC45A4     iHART2479chr8:
142221731-142221731
AACTexonicMaternalframeshift insertionNM_001080431
NM_001286646
c.2206_2207insAG
c.2366_2367insAG
p.V736fs
p.S789fs
--Ruzzo2019 G
SLC45A4     AU4234302chr8:
142332439-142332439
AGintergenicDe novo--Yuen2017 G
SLC45A4     5-0054-003chr8:
142245250-142245250
CGintronicDe novo--Yuen2017 G
SLC45A4     1-0180-004chr8:
142311172-142311172
GAintergenicDe novo--Yuen2017 G
SLC45A4     1-0231-004chr8:
142269325-142269325
GAintergenicDe novo--Yuen2017 G
SLC45A4     12498.p1chr8:
142272046-142272046
CTintergenicDe novo--Turner2016 G
SLC45A4     2-1275-003chr8:
142306573-142306573
GAintergenicDe novo--Yuen2017 G
SLC45A4     AU070007chr8:
142218481-142218481
GAUTR3De novo--Yuen2017 G
SLC45A4     AU2123302chr8:
142238739-142238739
AGintronicDe novo--Yuen2017 G
SLC45A4     1-0233-004chr8:
142260389-142260395
TTTTCACTintronicDe 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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