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Results for "PARD3"

Variant Events: 30

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
PARD3     AU3911301chr10:
34952286-34952286
CTintronicDe novo--Yuen2017 G
PARD3     2-1456-004chr10:
34550600-34550600
GAintronicDe novo--Yuen2017 G
PARD3     AU3951301chr10:
34867149-34867149
CTintronicDe novo--Yuen2017 G
PARD3     AU4159302chr10:
34635430-34635430
GAintronicDe novo--Yuen2017 G
PARD3     2-0318-004chr10:
34963682-34963682
TAintronicDe novo--Yuen2017 G
PARD3     AU073006chr10:
34923684-34923684
CTintronicDe novo--Yuen2017 G
PARD3     2-1452-003chr10:
34755087-34755087
CAintronicDe novo--Yuen2016 G
PARD3     2-0300-003chr10:
34985485-34985485
TCintronicDe novo--Yuen2017 G
PARD3     14323.p1chr10:
34661419-34661419
CTintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
PARD3     AU3451301chr10:
35098142-35098142
TCintronicDe novo--Yuen2017 G
PARD3     AU3866301chr10:
34650332-34650332
TGintronicDe novo--Yuen2017 G
PARD3     AU4264302chr10:
34493334-34493334
CTintronicDe novo--Yuen2017 G
PARD3     5-0088-003chr10:
34951637-34951637
TCintronicDe novo--Yuen2017 G
PARD3     1-0835-003chr10:
34993899-34993899
CAintronicDe novo--Yuen2017 G
PARD3     AU4269301chr10:
34780252-34780252
TCintronicDe novo--Yuen2017 G
PARD3     3-0111-000chr10:
34869712-34869712
GAintronicDe novo--Yuen2016 G
PARD3     2-0210-005chr10:
34671556-34671556
CTexonicDe novosynonymous SNVNM_001184790
NM_001184791
NM_001184785
NM_001184786
NM_001184787
NM_001184788
NM_001184789
NM_001184792
NM_001184793
NM_001184794
NM_019619
c.G1179A
c.G1179A
c.G1311A
c.G1311A
c.G1311A
c.G1311A
c.G1311A
c.G1311A
c.G1311A
c.G1311A
c.G1311A
p.S393S
p.S393S
p.S437S
p.S437S
p.S437S
p.S437S
p.S437S
p.S437S
p.S437S
p.S437S
p.S437S
-2.471E-5Yuen2015 G
Yuen2017 G
PARD3     2-0129-004chr10:
34864657-34864659
CTACintronicDe novo--Yuen2017 G
PARD3     2-1254-003chr10:
35081951-35081951
CAintronicDe novo--Yuen2016 G
Yuen2017 G
PARD3     2-1427-003chr10:
35084860-35084860
TGintronicDe novo--Yuen2017 G
PARD3     AU4356302chr10:
34485540-34485540
CTintronicDe novo--Yuen2017 G
PARD3     1-0213-004chr10:
34539079-34539080
CCCCGCintronicDe novo--Yuen2017 G
PARD3     AU3702306chr10:
34433011-34433011
ATintronicDe novo--Yuen2017 G
PARD3     2-1715-004chr10:
34544183-34544183
TCintronicDe novo--Yuen2017 G
PARD3     1-0181-004chr10:
34620831-34620831
TCintronicDe novo--Yuen2017 G
PARD3     2-1409-003chr10:
34902327-34902327
TCintronicDe novo--Yuen2016 G
Yuen2017 G
PARD3     1-0107-003chr10:
34491449-34491449
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PARD3     2-1738-003chr10:
34975681-34975681
AGintronicDe novo--Yuen2017 G
PARD3     2-0309-004chr10:
34426345-34426345
TCintronicDe novo--Yuen2017 G
PARD3     5-0123-003chr10:
34783191-34783191
ATintronicDe 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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