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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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