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Results for "LEO1"

Variant Events: 14

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
LEO1     Gecz1_24655chr15:
52242179-52242179
GCexonicUnknownnonsynonymous SNVNM_001286430
NM_138792
c.C1444G
c.C1624G
p.R482G
p.R542G
15.241.829E-5Wang2020 T
LEO1     Gecz1_16532chr15:
52242179-52242179
GCexonicUnknownnonsynonymous SNVNM_001286430
NM_138792
c.C1444G
c.C1624G
p.R482G
p.R542G
15.241.829E-5Wang2020 T
LEO1     Courchesne_C7Y6Pchr15:
52258570-52258570
CAexonicUnknownnonsynonymous SNVNM_001286430
NM_138792
c.G190T
c.G190T
p.D64Y
p.D64Y
25.32.0E-4Wang2020 T
LEO1     Leuven2_60892282chr15:
52242179-52242179
GCexonicUnknownnonsynonymous SNVNM_001286430
NM_138792
c.C1444G
c.C1624G
p.R482G
p.R542G
15.241.829E-5Wang2020 T
LEO1     Leuven2_62496310chr15:
52245341-52245341
GAexonicUnknownnonsynonymous SNVNM_001286430
NM_138792
c.C1280T
c.C1460T
p.T427M
p.T487M
26.18.311E-6Wang2020 T
LEO1     1-0898-003chr15:
52255818-52255818
GAintronicDe novo--Yuen2017 G
LEO1     1-0513-003chr15:
52308338-52308338
CTintergenicDe novo--Yuen2016 G
LEO1     7-0219-003chr15:
52283238-52283238
TAintergenicDe novo--Yuen2017 G
LEO1     Leuven_149991chr15:
52242161-52242161
GAexonicUnknownnonsynonymous SNVNM_001286430
NM_138792
c.C1462T
c.C1642T
p.R488C
p.R548C
22.4-Wang2020 T
LEO1     ACGC_GX0397.p1chr15:
52242179-52242179
GAexonicMaternalnonsynonymous SNVNM_001286430
NM_138792
c.C1444T
c.C1624T
p.R482C
p.R542C
19.81-Wang2020 T
LEO1     Leuven_243126chr15:
52263919-52263919
GCexonicUnknownnonsynonymous SNVNM_001286430
NM_138792
c.C24G
c.C24G
p.F8L
p.F8L
24.5-Wang2020 T
LEO1     08C78745chr15:
52242140-52242140
GAexonicUnknown, De novostopgainNM_001286430
NM_138792
c.C1483T
c.C1663T
p.R495X
p.R555X
36.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
LEO1     SF0142938.p1chr15:
52250951-52250951
CGexonicnonsynonymous SNVNM_138792c.G1233Cp.R411S17.3-Wang2020 T
LEO1     SP0142938chr15:
52250951-52250951
CGexonicDe novononsynonymous SNVNM_138792c.G1233Cp.R411S17.3-Fu2022 E
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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