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Results for "SLC22A23"

Variant Events: 32

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
SLC22A23     10C109043chr6:
3285152-3285152
AGintronicDe novo--Satterstrom2020 E
SLC22A23     2-1415-004chr6:
3719987-3719987
GAintergenicDe novo--Yuen2017 G
SLC22A23     2-1206-003chr6:
3626300-3626300
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
SLC22A23     2-1066-003chr6:
3595951-3595951
GGATGTintergenicDe novo--Yuen2017 G
SLC22A23     5-0083-003chr6:
3399802-3399802
CTintronicDe novo--Yuen2017 G
SLC22A23     3-0169-000chr6:
3466637-3466637
GAintergenicDe novo--Yuen2016 G
SLC22A23     2-1117-003chr6:
3527953-3527953
GTintergenicDe novo--Yuen2016 G
SLC22A23     5-0055-003chr6:
3342857-3342857
AGintronicDe novo--Yuen2017 G
SLC22A23     1-0452-003chr6:
3530554-3530554
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
SLC22A23     AU4145303chr6:
3462981-3462981
CTintergenicDe novo--Yuen2017 G
SLC22A23     2-1451-003chr6:
3630889-3630889
AGintergenicDe novo--Yuen2017 G
SLC22A23     2-1155-003chr6:
3519067-3519067
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
SLC22A23     AU3125301chr6:
3638029-3638029
AGintergenicDe novo--Yuen2017 G
SLC22A23     1-0489-003chr6:
3602580-3602580
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
SLC22A23     2-1364-003chr6:
3291434-3291434
GCintronicDe novo--Yuen2017 G
SLC22A23     2-1364-003chr6:
3273775-3273775
CTintronicDe novo--Yuen2017 G
SLC22A23     12498.p1chr6:
3545537-3545537
TAintergenicDe novo--Turner2016 G
SLC22A23     1-0467-003chr6:
3618619-3618619
TAintergenicDe novo--Yuen2017 G
SLC22A23     2-1066-004chr6:
3595951-3595951
GGATGTintergenicDe novo--Yuen2017 G
SLC22A23     1-0453-003chr6:
3514830-3514830
GTintergenicDe novo--Yuen2017 G
SLC22A23     1-0244-003chr6:
3687856-3687856
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
SLC22A23     2-1137-003chr6:
3339075-3339075
GAintronicDe novo--Yuen2016 G
Yuen2017 G
SLC22A23     1-0045-004chr6:
3418089-3418089
AGintronicDe novo--Yuen2017 G
SLC22A23     5-0123-003chr6:
3323412-3323412
ATintronicDe novo--Yuen2017 G
SLC22A23     12821.p1chr6:
3273379-3273379
CTexonicDe novosynonymous SNVNM_001286455
NM_015482
NM_021945
c.G1128A
c.G1971A
c.G1128A
p.E376E
p.E657E
p.E376E
--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
SLC22A23     AU2975302chr6:
3538463-3538463
CTintergenicDe novo--Yuen2017 G
SLC22A23     SSC05931chr6:
3273379-3273379
CTexonicDe novosynonymous SNVNM_001286455
NM_015482
NM_021945
c.G1128A
c.G1971A
c.G1128A
p.E376E
p.E657E
p.E376E
--Lim2017 E
SLC22A23     1-0443-003chr6:
3285152-3285152
AGintronicDe novo--Yuen2016 G
SLC22A23     DEASD_0405_001chr6:
3273431-3273431
GAexonicDe novononsynonymous SNVNM_001286455
NM_015482
NM_021945
c.C1076T
c.C1919T
c.C1076T
p.P359L
p.P640L
p.P359L
19.788.347E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SLC22A23     UK10K_SKUSE5080165chr6:
3284159-3284171
CCACGATGGAAAACexonicDe novononframeshift deletionNM_001286455
NM_015482
NM_021945
c.775_786del
c.1618_1629del
c.775_786del
p.259_262del
p.540_543del
p.259_262del
--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
SLC22A23     1-0558-003chr6:
3304934-3304934
GCintronicDe novo--Yuen2017 G
SLC22A23     AU4347301chr6:
3547058-3547058
TCintergenicDe 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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