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Results for "POU6F2"

Variant Events: 49

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
POU6F2     1-0028-003chr7:
39567040-39567040
GTintergenicDe novo--Yuen2017 G
POU6F2     2-1336-003chr7:
39376162-39376162
TAintronicDe novo--Yuen2017 G
POU6F2     7-0174-003chr7:
39047953-39047953
CTintronicDe novo--Yuen2017 G
POU6F2     AU4242302chr7:
39377975-39377975
AGintronicDe novo--Yuen2017 G
POU6F2     2-0197-004chr7:
39452011-39452011
AGintronicDe novo--Yuen2017 G
POU6F2     1-0019-004chr7:
39407820-39407820
CAintronicDe novo--Yuen2017 G
POU6F2     1-0218-004chr7:
39328552-39328552
CTintronicDe novo--Yuen2017 G
POU6F2     11565.p1chr7:
39472990-39472990
GCintronicDe novo--Werling2018 G
POU6F2     AU3849303chr7:
39602793-39602793
AGintergenicDe novo--Yuen2017 G
POU6F2     2-0270-004chr7:
39593247-39593247
CTintergenicDe novo--Yuen2017 G
POU6F2     1-0382-004chr7:
39546507-39546507
ACintergenicDe novo--Yuen2017 G
POU6F2     1-0467-003chr7:
39268489-39268489
CTintronicDe novo--Yuen2017 G
POU6F2     2-1173-003chr7:
39208352-39208352
GAintronicDe novo--Yuen2017 G
POU6F2     AU3862305chr7:
39086851-39086851
CGintronicDe novo--Yuen2017 G
POU6F2     2-0306-004chr7:
39506606-39506606
AGintergenicDe novo--Yuen2017 G
POU6F2     2-1389-003chr7:
39261135-39261135
GAintronicDe novo--Yuen2016 G
Yuen2017 G
POU6F2     2-0003-004chr7:
39340905-39340905
TGintronicDe novo--Yuen2017 G
POU6F2     2-0306-003chr7:
39506606-39506606
AGintergenicDe novo--Yuen2016 G
POU6F2     1-0494-003Achr7:
39247436-39247436
AGintronicDe novo--Yuen2017 G
POU6F2     AU047703chr7:
39325996-39325996
TCintronicDe novo--Yuen2017 G
POU6F2     SP0008615chr7:
39503884-39503884
GTexonicDe novononsynonymous SNVNM_007252c.G1675Tp.A559S6.302-Feliciano2019 E
POU6F2     1-0200-004chr7:
39247164-39247164
GCexonicDe novosynonymous SNVNM_001166018
NM_007252
c.G456C
c.G456C
p.L152L
p.L152L
--Yuen2017 G
POU6F2     1-0408-003chr7:
39520939-39520939
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
POU6F2     7-0059-003chr7:
39370314-39370314
AGintronicDe novo--Yuen2017 G
POU6F2     1572023chr7:
39500265-39500265
GTexonicDe novononsynonymous SNVNM_001166018
NM_007252
c.G1522T
c.G1522T
p.A508S
p.A508S
18.792.0E-4Satterstrom2020 E
POU6F2     1-0665-003chr7:
39550636-39550642
AGAACAGAintergenicDe novo--Yuen2017 G
POU6F2     AU066206chr7:
39145029-39145029
CTintronicDe novo--Yuen2017 G
POU6F2     1-0494-003chr7:
39247436-39247436
AGintronicDe novo--Yuen2017 G
POU6F2     1-0279-004chr7:
39289297-39289297
CCAintronicDe novo--Yuen2017 G
POU6F2     AU3874303chr7:
39174874-39174874
TCintronicDe novo--Yuen2017 G
POU6F2     A20chr7:
39537428-39537428
GAintergenicDe novo--Wu2018 G
POU6F2     2-1206-003chr7:
39062638-39062638
GAintronicDe novo--Yuen2016 G
Yuen2017 G
POU6F2     3-0456-000 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2016 G
Yuen2017 G
POU6F2     3-0456-000Bchr7:
39217838-39217841
GTGAGintronicDe novo--Yuen2017 G
POU6F2     2-1718-003chr7:
39187178-39187178
GAintronicDe novo--Yuen2017 G
POU6F2     2-1407-003chr7:
39489936-39489936
AGintronicDe novo--Yuen2016 G
Yuen2017 G
POU6F2     AU079605chr7:
39064518-39064518
TCintronicDe novo--Yuen2017 G
POU6F2     AU4315302chr7:
39413688-39413688
GTintronicDe novo--Yuen2017 G
POU6F2     3-0437-000chr7:
39143507-39143509
GAAGintronicDe novo--Yuen2016 G
POU6F2     2-1592-003chr7:
39598572-39598572
GAintergenicDe novo--Yuen2017 G
POU6F2     13964.p1chr7:
39437217-39437217
GAintronicDe novo--Turner2016 G
POU6F2     AU011604chr7:
39306595-39306595
GAintronicDe novo--Yuen2017 G
POU6F2     14642.p1chr7:
39437238-39437238
CTintronicDe novo--Turner2016 G
POU6F2     13515.p1chr7:
39119585-39119585
GAintronicDe novo--Turner2016 G
POU6F2     1-0534-003chr7:
39210735-39210735
CGintronicDe novo--Yuen2017 G
POU6F2     14370.p1chr7:
39151376-39151376
TCintronicDe novo--Turner2016 G
POU6F2     2-1129-003chr7:
39019406-39019406
GAintronicDe novo--Yuen2017 G
POU6F2     AU060403chr7:
39465965-39465965
CGintronicDe novo--Yuen2017 G
POU6F2     AU3725302chr7:
39030905-39030905
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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