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Results for "ST3GAL6"

Variant Events: 12

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
ST3GAL6     1-0141-003chr3:
98490934-98490934
AGintronicDe novo--Yuen2017 G
ST3GAL6     2-0202-004chr3:
98463857-98463857
CCTintronicDe novo--Yuen2017 G
ST3GAL6     AU2381302chr3:
98513283-98513283
TCUTR3De novo--Yuen2017 G
ST3GAL6     09C98975chr3:
98510684-98510684
GCsplicingDe novosplicing16.67-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
ST3GAL6     iHART3046chr3:
98492775-98492775
CTexonicMaternalstopgainNM_001271145
NM_001271146
NM_001271142
NM_001271147
NM_006100
c.C442T
c.C283T
c.C25T
c.C25T
c.C283T
p.R148X
p.R95X
p.R9X
p.R9X
p.R95X
25.48.243E-6Ruzzo2019 G
ST3GAL6     M10153chr3:
98507230-98507230
CTexonicPaternalstopgainNM_001271148
NM_001271145
NM_001271146
NM_001271147
NM_001271142
NM_006100
c.C247T
c.C838T
c.C679T
c.C325T
c.C421T
c.C679T
p.R83X
p.R280X
p.R227X
p.R109X
p.R141X
p.R227X
23.2-Guo2018 T
Wang2016 T
ST3GAL6     12295.p1chr3:
98489722-98489722
GTsplicingMosaicsplicing18.6-Dou2017 E
ST3GAL6     M08317 Complex Event; expand row to view variants  Paternalframeshift deletionNM_001271145
NM_001271146
NM_006100
NM_001271145
NM_001271146
NM_006100
c.283delA
c.124delA
c.124delA
c.282delG
c.123delG
c.123delG
p.I95fs
p.I42fs
p.I42fs
p.K94fs
p.K41fs
p.K41fs
--Guo2018 T
Wang2016 T
ST3GAL6     2-0242-003chr3:
98455128-98455128
AGintronicDe novo--Yuen2017 G
ST3GAL6     08C72362chr3:
98506939-98506939
GAexonicUnknownnonsynonymous SNVNM_001271148
NM_001271145
NM_001271146
NM_001271147
NM_001271142
NM_006100
c.G59A
c.G650A
c.G491A
c.G137A
c.G233A
c.G491A
p.R20Q
p.R217Q
p.R164Q
p.R46Q
p.R78Q
p.R164Q
28.78.324E-6Stessman2017 T
ST3GAL6     08C72363chr3:
98506939-98506939
GAexonicUnknownnonsynonymous SNVNM_001271148
NM_001271145
NM_001271146
NM_001271147
NM_001271142
NM_006100
c.G59A
c.G650A
c.G491A
c.G137A
c.G233A
c.G491A
p.R20Q
p.R217Q
p.R164Q
p.R46Q
p.R78Q
p.R164Q
28.78.324E-6Stessman2017 T
ST3GAL6     AU062204chr3:
98512660-98512660
AGUTR3De 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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