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Results for "SMYD3"

Variant Events: 40

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
SMYD3     2-1296-003chr1:
246590079-246590086
TTAACTCTTTintronicDe novo--Yuen2017 G
SMYD3     2-1360-003chr1:
246419304-246419304
ATintronicDe novo--Yuen2017 G
SMYD3     2-0299-003chr1:
246486566-246486566
TAintronicDe novo--Yuen2017 G
SMYD3     1-0531-003chr1:
246206759-246206759
CAintronicDe novo--Yuen2016 G
Yuen2017 G
SMYD3     7-0215-003chr1:
246158300-246158300
GAintronicDe novo--Yuen2017 G
SMYD3     AU2381302chr1:
246447494-246447494
ACintronicDe novo--Yuen2017 G
SMYD3     1-0181-004chr1:
246198802-246198802
CTintronicDe novo--Yuen2017 G
SMYD3     1-0292-005chr1:
246230479-246230479
GAintronicDe novo--Yuen2017 G
SMYD3     2-1353-003chr1:
246126602-246126602
CGintronicDe novo--Yuen2016 G
Yuen2017 G
SMYD3     AU030804chr1:
246108404-246108404
CGintronicDe novo--Yuen2017 G
SMYD3     1-0901-003chr1:
245961701-245961701
CCAAATintronicDe novo--Yuen2017 G
SMYD3     AU072005chr1:
246515352-246515352
TCintronicDe novo--Yuen2017 G
SMYD3     iHART1777chr1:
245927452-245927452
CAsplicingMaternalsplicing18.54-Ruzzo2019 G
SMYD3     2-1297-004chr1:
246264382-246264382
TTGintronicDe novo--Yuen2017 G
SMYD3     08.s1chr1:
246021874-246021874
CTexonicDe novononsynonymous SNVNM_001167740
NM_022743
c.G1000A
c.G823A
p.A334T
p.A275T
26.13.296E-5An2014 E
SMYD3     7-0067-003chr1:
246208804-246208804
CTintronicDe novo--Yuen2017 G
SMYD3     2-1267-003chr1:
245961701-245961701
CCAAATintronicDe novo--Yuen2017 G
SMYD3     1-1004-003chr1:
246618499-246618499
GCintronicDe novo--Yuen2017 G
SMYD3     AU071703chr1:
246614542-246614542
CTintronicDe novo--Yuen2017 G
SMYD3     AU1223303chr1:
246015200-246015200
GAintronicDe novo--Yuen2017 G
SMYD3     AU3913303chr1:
246202040-246202040
GAintronicDe novo--Yuen2017 G
SMYD3     13951.p1chr1:
246323102-246323102
CTintronicDe novo--Turner2016 G
SMYD3     2-0214-004chr1:
246395085-246395085
CAintronicDe novo--Yuen2017 G
SMYD3     AU072904chr1:
246561000-246561000
CTintronicDe novo--Yuen2017 G
SMYD3     AU4015302chr1:
246222124-246222124
TGintronicDe novo--Yuen2017 G
SMYD3     AU1640302chr1:
246300404-246300410
TTTAATTTTTintronicDe novo--Yuen2017 G
SMYD3     13069.p1chr1:
246588141-246588141
GCintronicDe novo--Turner2016 G
SMYD3     11002.p1chr1:
246401944-246401944
CTintronicDe novo--Turner2016 G
SMYD3     2-1722-003chr1:
246516764-246516764
CTintronicDe novo--Yuen2017 G
SMYD3     13942.p1chr1:
246548903-246548903
TGintronicDe novo--Turner2016 G
SMYD3     2-0289-004chr1:
246458290-246458290
TCintronicDe novo--Yuen2017 G
SMYD3     1-0986-003chr1:
246357574-246357574
GTintronicDe novo--Yuen2017 G
SMYD3     AU4264302chr1:
246362683-246362683
AGintronicDe novo--Yuen2017 G
SMYD3     AU3839303chr1:
246133405-246133405
CAintronicDe novo--Yuen2017 G
SMYD3     5-0077-003chr1:
245961701-245961701
CCAAATintronicDe novo--Yuen2017 G
SMYD3     AU3839303chr1:
246133415-246133415
CTintronicDe novo--Yuen2017 G
SMYD3     1-0051-005chr1:
246167687-246167687
GAintronicDe novo--Yuen2017 G
SMYD3     AU3839303chr1:
246262715-246262715
GAintronicDe novo--Yuen2017 G
SMYD3     2-1188-003chr1:
246527087-246527087
GAintronicDe novo--Yuen2017 G
SMYD3     AU017704chr1:
245965583-245965583
CTintronicDe 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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