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Results for "SLC16A7"

Variant Events: 103

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
SLC16A7     1-0201-005chr12:
61985963-61985963
GGAintergenicDe novo--Yuen2017 G
SLC16A7     1-0263-003chr12:
62044515-62044515
CTintergenicDe novo--Yuen2016 G
SLC16A7     3-0432-000chr12:
60129326-60129326
ACintronicDe novo--Yuen2016 G
Yuen2017 G
SLC16A7     5-0077-003chr12:
60821140-60821140
TTAGACACACTCintergenicDe novo--Yuen2017 G
SLC16A7     1-0446-003chr12:
60225819-60225819
TTGintergenicDe novo--Yuen2017 G
SLC16A7     2-1215-003chr12:
61677794-61677794
ATintergenicDe novo--Yuen2017 G
SLC16A7     2-1210-003chr12:
61638517-61638522
TTTAAGTintergenicDe novo--Yuen2017 G
SLC16A7     2-1210-003chr12:
60560804-60560804
GGAintergenicDe novo--Yuen2017 G
SLC16A7     A3chr12:
60427268-60427268
GAintergenicDe novo--Wu2018 G
SLC16A7     1-0553-003chr12:
61178625-61178625
GCintergenicDe novo--Yuen2017 G
SLC16A7     2-1350-003chr12:
60225878-60225878
TTGintergenicDe novo--Yuen2017 G
SLC16A7     1-1004-003chr12:
60950063-60950063
AGintergenicDe novo--Yuen2017 G
SLC16A7     1-1004-003chr12:
60945242-60945242
GAintergenicDe novo--Yuen2017 G
SLC16A7     3-0458-000Bchr12:
60769357-60769357
AGintergenicDe novo--Yuen2017 G
SLC16A7     5-0114-003chr12:
61440127-61440127
CTintergenicDe novo--Yuen2017 G
SLC16A7     AU4347301chr12:
61612510-61612512
TAATAintergenicDe novo--Yuen2017 G
SLC16A7     13964.p1chr12:
60219735-60219735
AGintergenicDe novo--Werling2018 G
SLC16A7     1-0253-004chr12:
61521979-61521979
GAintergenicDe novo--Yuen2017 G
SLC16A7     1-0253-004chr12:
60202495-60202495
AGintergenicDe novo--Yuen2017 G
SLC16A7     AU4219302chr12:
61150234-61150234
AGintergenicDe novo--Yuen2017 G
SLC16A7     AU4306302chr12:
60155353-60155353
CAintronicDe novo--Yuen2017 G
SLC16A7     1-0387-003chr12:
60075039-60075039
AGintronicDe novo--Yuen2016 G
Yuen2017 G
SLC16A7     2-1148-004chr12:
60688031-60688031
TAintergenicDe novo--Yuen2017 G
SLC16A7     2-1407-003chr12:
60440586-60440587
TGTintergenicDe novo--Yuen2017 G
SLC16A7     1-0196-005chr12:
61565169-61565180
AAGGGAGGGAGGAAGGGAGGintergenicDe novo--Yuen2017 G
SLC16A7     AU4054302chr12:
60207654-60207654
AGintergenicDe novo--Yuen2017 G
SLC16A7     74-0117chr12:
61329558-61329558
GAintergenicDe novo--Michaelson2012 G
SLC16A7     2-0304-004chr12:
61037221-61037221
CTintergenicDe novo--Yuen2017 G
SLC16A7     AU4452302chr12:
61217898-61217898
AGintergenicDe novo--Yuen2017 G
SLC16A7     2-1626-003chr12:
60548366-60548366
GCintergenicDe novo--Yuen2017 G
SLC16A7     1-0181-004chr12:
61078422-61078423
TCTintergenicDe novo--Yuen2017 G
SLC16A7     AU054304chr12:
61874883-61874885
CTTCTintergenicDe novo--Yuen2017 G
SLC16A7     1-0325-003chr12:
61973534-61973534
CAintergenicDe novo--Yuen2017 G
SLC16A7     1-0325-003chr12:
60816591-60816591
CTintergenicDe novo--Yuen2017 G
SLC16A7     A30chr12:
60965443-60965443
CTintergenicDe novo--Wu2018 G
SLC16A7     1-0200-004chr12:
61507176-61507176
TCintergenicDe novo--Yuen2017 G
SLC16A7     1-0683-003chr12:
61579937-61579937
AGintergenicDe novo--Yuen2017 G
SLC16A7     1-0547-003chr12:
60696242-60696242
CAintergenicDe novo--Yuen2017 G
SLC16A7     1-0289-003chr12:
60225819-60225819
TTGintergenicDe novo--Yuen2017 G
SLC16A7     AU3874303chr12:
60501826-60501826
CTintergenicDe novo--Yuen2017 G
SLC16A7     1-0171-005chr12:
62053526-62053526
TGintergenicDe novo--Yuen2017 G
SLC16A7     2-0143-004chr12:
61211844-61211844
CGintergenicDe novo--Yuen2017 G
SLC16A7     AU3125301chr12:
60373562-60373562
TGintergenicDe novo--Yuen2017 G
SLC16A7     AU4093304chr12:
61715999-61715999
TGintergenicDe novo--Yuen2017 G
SLC16A7     2-1389-003chr12:
61608532-61608532
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
SLC16A7     7-0097-003chr12:
62075772-62075772
CAintergenicDe novo--Yuen2017 G
SLC16A7     2-0002-005chr12:
61001658-61001658
GTintergenicDe novo--Yuen2017 G
SLC16A7     1-0453-003chr12:
60920101-60920101
CTintergenicDe novo--Yuen2017 G
SLC16A7     3-0458-000chr12:
60769357-60769357
AGintergenicDe novo--Yuen2016 G
SLC16A7     AU072005chr12:
60668092-60668092
GAintergenicDe novo--Yuen2017 G
SLC16A7     AU2022302chr12:
61109196-61109196
ACintergenicDe novo--Yuen2017 G
SLC16A7     1-0292-005chr12:
62098682-62098682
AGintergenicDe novo--Yuen2017 G
SLC16A7     AU2427303chr12:
61132373-61132373
CGintergenicDe novo--Yuen2017 G
SLC16A7     AU3122301chr12:
60498879-60498879
GAintergenicDe novo--Yuen2017 G
SLC16A7     5-0065-003chr12:
61404718-61404718
AGintergenicDe novo--Yuen2017 G
SLC16A7     AU4462302chr12:
60945536-60945536
AGintergenicDe novo--Yuen2017 G
SLC16A7     5-0077-004chr12:
60821140-60821140
TTAGACACACTCintergenicDe novo--Yuen2017 G
SLC16A7     2-1440-003chr12:
61990265-61990265
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
SLC16A7     2-1128-003chr12:
60769377-60769377
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
SLC16A7     AU2075302chr12:
61386281-61386281
TCintergenicDe novo--Yuen2017 G
SLC16A7     1-0372-003chr12:
60806268-60806268
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
SLC16A7     3-0392-000chr12:
61411785-61411785
ATintergenicDe novo--Yuen2016 G
SLC16A7     3-0437-000chr12:
61761216-61761216
CTintergenicDe novo--Yuen2016 G
SLC16A7     AU3713302chr12:
60593641-60593641
GCintergenicDe novo--Yuen2017 G
SLC16A7     2-1254-003chr12:
60334476-60334476
GAintergenicDe novo--Yuen2016 G
SLC16A7     14475.p1chr12:
60173373-60173373
CAexonicDe novosynonymous SNVNM_004731
NM_001270622
NM_001270623
c.C1350A
c.C1350A
c.C1350A
p.P450P
p.P450P
p.P450P
--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
SLC16A7     5-0099-003chr12:
60095264-60095267
TTCTTTintronicDe novo--Yuen2017 G
SLC16A7     AU027506chr12:
61131067-61131067
GAintergenicDe novo--Yuen2017 G
SLC16A7     2-1348-003chr12:
61162368-61162368
TGintergenicDe novo--Yuen2017 G
SLC16A7     AU4412302chr12:
61217986-61217986
CAintergenicDe novo--Yuen2017 G
SLC16A7     2-1254-003chr12:
61190704-61190704
AGintergenicDe novo--Yuen2016 G
SLC16A7     AU4286302chr12:
60691690-60691690
AGintergenicDe novo--Yuen2017 G
SLC16A7     3-0458-000Achr12:
60769357-60769357
AGintergenicDe novo--Yuen2017 G
SLC16A7     2-1502-003chr12:
61322189-61322189
GAintergenicDe novo--Yuen2017 G
SLC16A7     AU4239301chr12:
61228125-61228125
TCintergenicDe novo--Yuen2017 G
SLC16A7     iHART2284chr12:
60168503-60168503
CTexonicPaternalstopgainNM_004731
NM_001270622
NM_001270623
c.C427T
c.C427T
c.C427T
p.R143X
p.R143X
p.R143X
38.01.655E-5Ruzzo2019 G
SLC16A7     1-0300-003chr12:
60982973-60982973
ACintergenicDe novo--Yuen2017 G
SLC16A7     AU3790301chr12:
60603192-60603192
TGintergenicDe novo--Yuen2017 G
SLC16A7     AU4032307chr12:
61361294-61361294
AGintergenicDe novo--Yuen2017 G
SLC16A7     iHART2285chr12:
60168503-60168503
CTexonicPaternalstopgainNM_004731
NM_001270622
NM_001270623
c.C427T
c.C427T
c.C427T
p.R143X
p.R143X
p.R143X
38.01.655E-5Ruzzo2019 G
SLC16A7     AU011704chr12:
61329558-61329558
GAintergenicDe novo--Yuen2017 G
SLC16A7     AU4263304chr12:
61459636-61459636
TAintergenicDe novo--Yuen2017 G
SLC16A7     2-1094-005chr12:
61457198-61457198
AGintergenicDe novo--Yuen2017 G
SLC16A7     1-0627-006chr12:
60083109-60083109
TCintronicDe novo--Yuen2017 G
SLC16A7     AU047703chr12:
60320764-60320764
AGintergenicDe novo--Yuen2017 G
SLC16A7     1-0269-005chr12:
61944994-61944994
GAintergenicDe novo--Yuen2017 G
SLC16A7     1-0563-003chr12:
60634973-60634973
CTintergenicDe novo--Yuen2017 G
SLC16A7     AU4093301chr12:
61898470-61898470
TCintergenicDe novo--Yuen2017 G
SLC16A7     7-0251-003chr12:
60258972-60258972
TCintergenicDe novo--Yuen2017 G
SLC16A7     AU0638302chr12:
61551573-61551573
AGintergenicDe novo--Yuen2017 G
SLC16A7     13171.p1chr12:
60423177-60423177
AGintergenicDe novo--Turner2016 G
SLC16A7     1-0555-003chr12:
61793993-61793993
TAintergenicDe novo--Yuen2017 G
SLC16A7     AU3399302chr12:
61645923-61645923
ACintergenicDe novo--Yuen2017 G
SLC16A7     ASD097chr12:
60165042-60165042
CTexonicDe novononsynonymous SNVNM_004731
NM_001270622
NM_001270623
c.C260T
c.C260T
c.C260T
p.P87L
p.P87L
p.P87L
24.72.474E-5Tran2020 E
Wu2019 E
SLC16A7     12498.p1chr12:
61804650-61804650
GCintergenicDe novo--Turner2016 G
SLC16A7     AU046707chr12:
60730582-60730582
TCintergenicDe novo--Yuen2017 G
SLC16A7     13649.p1chr12:
60222560-60222560
TCintergenicDe novo--Turner2016 G
SLC16A7     12498.p1chr12:
61804660-61804660
AGintergenicDe novo--Turner2016 G
SLC16A7     1-0546-003chr12:
60794423-60794423
TCintergenicDe novo--Yuen2017 G
SLC16A7     AU024004chr12:
61158535-61158535
CAintergenicDe novo--Yuen2017 G
SLC16A7     AU050603chr12:
61860572-61860572
ATintergenicDe novo--Yuen2017 G
SLC16A7     2-1369-003chr12:
60044223-60044223
GTintronicDe novo--Yuen2016 G
Yuen2017 G
SLC16A7     AU3881301chr12:
60912253-60912253
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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