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Results for "SOX6"

Variant Events: 43

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
SOX6     5-0125-003chr11:
16712713-16712713
CTintergenicDe novo--Yuen2017 G
SOX6     5-0050-003chr11:
16756111-16756111
TCintergenicDe novo--Yuen2017 G
SOX6     1-0233-004chr11:
16732930-16732930
GCintergenicDe novo--Yuen2017 G
SOX6     7-0174-003chr11:
16467862-16467862
TCintronicDe novo--Yuen2017 G
SOX6     5-0015-003chr11:
16279958-16279958
CTintronicDe novo--Yuen2017 G
SOX6     1-0976-003chr11:
16551943-16551943
TCintergenicDe novo--Yuen2017 G
SOX6     AU0786305chr11:
16530129-16530129
GAintergenicDe novo--Yuen2017 G
SOX6     2-1456-004chr11:
16019506-16019506
AGintronicDe novo--Yuen2017 G
SOX6     AU3984302chr11:
16038797-16038797
TGintronicDe novo--Yuen2017 G
SOX6     11800.p1chr11:
16117556-16117556
GCexonicDe novononsynonymous SNVNM_001145819
NM_033326
c.C1126G
c.C1087G
p.H376D
p.H363D
4.139-Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
SOX6     2-1402-003chr11:
16543573-16543573
GAintergenicDe novo--Yuen2017 G
SOX6     AU2333302chr11:
16240838-16240838
GAintronicDe novo--Yuen2017 G
SOX6     AU4219302chr11:
16748356-16748356
GAintergenicDe novo--Yuen2017 G
SOX6     2-0214-004chr11:
16464470-16464470
AGintronicDe novo--Yuen2017 G
SOX6     1-0206-005chr11:
16651048-16651048
TCintergenicDe novo--Yuen2017 G
SOX6     1-0126-003chr11:
16223216-16223216
GCintronicDe novo--Yuen2017 G
SOX6     AU3451301chr11:
16545642-16545642
AGintergenicDe novo--Yuen2017 G
SOX6     1-0402-004chr11:
16019558-16019558
AGintronicDe novo--Yuen2017 G
SOX6     AU3371303chr11:
16582091-16582091
TCintergenicDe novo--Yuen2017 G
SOX6     2-0319-003chr11:
16203832-16203832
AGintronicDe novo--Yuen2017 G
SOX6     2-1486-003chr11:
16215979-16215979
ATintronicDe novo--Yuen2017 G
SOX6     AU4306302chr11:
16504347-16504353
AAAGAAGAAAGintergenicDe novo--Yuen2017 G
SOX6     2-0295-003chr11:
16559607-16559607
TAintergenicDe novo--Yuen2017 G
SOX6     2-0149-004chr11:
16151245-16151245
TCintronicDe novo--Yuen2017 G
SOX6     1-0138-004chr11:
16246211-16246211
TAintronicDe novo--Yuen2017 G
SOX6     1-0522-003chr11:
16101067-16101068
ACAintronicDe novo--Yuen2016 G
Yuen2017 G
SOX6     AU4027306chr11:
16197351-16197352
TCTintronicDe novo--Yuen2017 G
SOX6     5-0015-004chr11:
16099535-16099535
ACintronicDe novo--Yuen2017 G
SOX6     1-0065-005chr11:
16372224-16372224
TCintronicDe novo--Yuen2017 G
SOX6     7-0254-004chr11:
16297419-16297419
AGintronicDe novo--Yuen2017 G
SOX6     7-0143-003chr11:
16711204-16711204
AGintergenicDe novo--Yuen2017 G
SOX6     2-1258-004chr11:
16087482-16087482
TGintronicDe novo--Yuen2017 G
SOX6     2-1112-003chr11:
16543858-16543858
GTintergenicDe novo--Yuen2017 G
SOX6     2-1348-003chr11:
16143612-16143612
ACintronicDe novo--Yuen2017 G
SOX6     AU0146302chr11:
16539020-16539020
AGintergenicDe novo--Yuen2017 G
SOX6     AU3190305chr11:
16558050-16558050
GAintergenicDe novo--Yuen2017 G
SOX6     2-1292-003chr11:
16236327-16236327
GAintronicDe novo--Yuen2017 G
SOX6     1-0338-003chr11:
16535939-16535939
AAATintergenicDe novo--Yuen2017 G
SOX6     2-1252-003chr11:
16072585-16072585
CGintronicDe novo--Yuen2017 G
SOX6     5-0133-003chr11:
16220983-16220983
CTintronicDe novo--Yuen2017 G
SOX6     3-0432-000chr11:
16294176-16294176
AGintronicDe novo--Yuen2016 G
Yuen2017 G
SOX6     Mahjani2021:17chr11:
15994651-15994651
GTexonicnonsynonymous SNVNM_001145811
NM_017508
NM_001145819
NM_033326
c.C2110A
c.C2119A
c.C2230A
c.C2131A
p.P704T
p.P707T
p.P744T
p.P711T
15.94-Mahjani2021 E
SOX6     AU3397302chr11:
16105079-16105079
GAintronicDe 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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