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Results for "PDCD6IP"

Variant Events: 56

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
PDCD6IP     2-1296-003chr3:
34280194-34280194
CTintergenicDe novo--Yuen2017 G
PDCD6IP     1-0339-003chr3:
34030548-34030548
CTintergenicDe novo--Yuen2017 G
PDCD6IP     11456.p1chr3:
34321660-34321660
CTintergenicDe novo--Turner2016 G
Werling2018 G
PDCD6IP     2-1525-003chr3:
34498242-34498242
AGintergenicDe novo--Yuen2017 G
PDCD6IP     1-0067-005chr3:
34887321-34887321
GAintergenicDe novo--Yuen2017 G
PDCD6IP     AU4233301chr3:
33985818-33985818
TCintergenicDe novo--Yuen2017 G
PDCD6IP     AU070007chr3:
34479453-34479453
GCintergenicDe novo--Yuen2017 G
PDCD6IP     1-0497-003chr3:
34533435-34533435
CAintergenicDe novo--Yuen2017 G
PDCD6IP     AU2075301chr3:
34823377-34823381
CTGTGCTGintergenicDe novo--Yuen2017 G
PDCD6IP     PN400512chr3:
33883492-33883492
GAexonicUnknownnonsynonymous SNVNM_001162429
NM_013374
c.G1300A
c.G1285A
p.G434S
p.G429S
32.00.0076Leblond2019 E
PDCD6IP     PN400171chr3:
33883492-33883492
GAexonicUnknownnonsynonymous SNVNM_001162429
NM_013374
c.G1300A
c.G1285A
p.G434S
p.G429S
32.00.0076Leblond2019 E
PDCD6IP     PN400483chr3:
33883492-33883492
GAexonicUnknownnonsynonymous SNVNM_001162429
NM_013374
c.G1300A
c.G1285A
p.G434S
p.G429S
32.00.0076Leblond2019 E
PDCD6IP     2-1279-003chr3:
34530263-34530263
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
PDCD6IP     1-0067-004chr3:
34887321-34887321
GAintergenicDe novo--Yuen2017 G
PDCD6IP     AU3761302chr3:
34617441-34617441
GAintergenicDe novo--Yuen2017 G
PDCD6IP     1-0200-004chr3:
34732932-34732933
TATintergenicDe novo--Yuen2017 G
PDCD6IP     1-0388-003chr3:
34381889-34381889
GAintergenicDe novo--Yuen2017 G
PDCD6IP     2-0116-004chr3:
34201441-34201441
GAintergenicDe novo--Yuen2017 G
PDCD6IP     AU045512chr3:
34892558-34892558
AGintergenicDe novo--Yuen2017 G
PDCD6IP     PN400493chr3:
33883492-33883492
GAexonicUnknownnonsynonymous SNVNM_001162429
NM_013374
c.G1300A
c.G1285A
p.G434S
p.G429S
32.00.0076Leblond2019 E
PDCD6IP     2-0503-004chr3:
33925212-33925212
TCintergenicDe novo--Yuen2017 G
PDCD6IP     2-0318-004chr3:
34721968-34721968
GAintergenicDe novo--Yuen2017 G
PDCD6IP     5-0061-003chr3:
34532311-34532311
GGAAintergenicDe novo--Yuen2017 G
PDCD6IP     5-0061-003chr3:
34888395-34888395
ATintergenicDe novo--Yuen2017 G
PDCD6IP     AU024608chr3:
34641016-34641016
TGintergenicDe novo--Yuen2017 G
PDCD6IP     A14chr3:
33904182-33904182
TCintronicDe novo--Wu2018 G
PDCD6IP     2-1529-003chr3:
33847517-33847517
GAintronicDe novo--Yuen2017 G
PDCD6IP     14420.p1chr3:
34779369-34779369
TGintergenicDe novo--Werling2018 G
PDCD6IP     3-0436-000chr3:
33868145-33868145
CAexonicDe novononsynonymous SNVNM_001256192c.C790Ap.Q264K--Yuen2016 G
Yuen2017 G
PDCD6IP     14642.p1chr3:
33979556-33979556
GTintergenicDe novo--Turner2016 G
PDCD6IP     1-0433-003chr3:
34024454-34024454
CAintergenicDe novo--Yuen2017 G
PDCD6IP     7-0128-003chr3:
34008386-34008386
GAintergenicDe novo--Yuen2017 G
PDCD6IP     AU1725302chr3:
33926704-33926704
TCintergenicDe novo--Yuen2017 G
PDCD6IP     AU011604chr3:
34714370-34714370
CTintergenicDe novo--Yuen2017 G
PDCD6IP     PN400116chr3:
33883492-33883492
GAexonicUnknownnonsynonymous SNVNM_001162429
NM_013374
c.G1300A
c.G1285A
p.G434S
p.G429S
32.00.0076Leblond2019 E
PDCD6IP     2-0503-003chr3:
33925212-33925212
TCintergenicDe novo--Yuen2017 G
PDCD6IP     AU4092302chr3:
34421867-34421867
AGintergenicDe novo--Yuen2017 G
PDCD6IP     2-1323-003chr3:
34630872-34630872
CAintergenicDe novo--Yuen2017 G
PDCD6IP     AU4378301chr3:
34443696-34443696
GCintergenicDe novo--Yuen2017 G
PDCD6IP     3-0430-000chr3:
34752480-34752485
TTTTAGTintergenicDe novo--Yuen2016 G
PDCD6IP     1-0565-003chr3:
34817190-34817190
CTintergenicDe novo--Yuen2017 G
PDCD6IP     7-0140-003chr3:
34803716-34803716
GAintergenicDe novo--Yuen2017 G
PDCD6IP     1-0918-003chr3:
34677809-34677809
CTintergenicDe novo--Yuen2017 G
PDCD6IP     AU4159302chr3:
34255327-34255327
TCintergenicDe novo--Yuen2017 G
PDCD6IP     AU2793302chr3:
34175355-34175355
TCintergenicDe novo--Yuen2017 G
PDCD6IP     2-1205-003chr3:
34375761-34375761
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
PDCD6IP     2-1277-004chr3:
33935047-33935047
ACintergenicDe novo--Yuen2017 G
PDCD6IP     1-0906-003chr3:
34110558-34110558
GAintergenicDe novo--Yuen2017 G
PDCD6IP     1-0019-004chr3:
33911337-33911337
ACdownstreamDe novo--Yuen2017 G
PDCD6IP     AU3716301chr3:
34141008-34141008
CTintergenicDe novo--Yuen2017 G
PDCD6IP     AU4264302chr3:
34712255-34712255
GAintergenicDe novo--Yuen2017 G
PDCD6IP     2-1398-004chr3:
34521687-34521687
TGintergenicDe novo--Yuen2017 G
PDCD6IP     1-0049-004chr3:
34710471-34710471
AGintergenicDe novo--Yuen2017 G
PDCD6IP     PN400170chr3:
33883492-33883492
GAexonicUnknownnonsynonymous SNVNM_001162429
NM_013374
c.G1300A
c.G1285A
p.G434S
p.G429S
32.00.0076Leblond2019 E
PDCD6IP     AU1795302chr3:
34311092-34311093
CACAAintergenicDe novo--Yuen2017 G
PDCD6IP     7-0044-003chr3:
34072528-34072528
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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