Variant Results

or

Results for "SLC16A7"

Variant Events: 104

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

1-0201-005

chr12:
61985963-61985963

G

GA

intergenic

De novo

-

Yuen2017 G

SLC16A7

1-0263-003

chr12:
62044515-62044515

C

T

intergenic

De novo

-

Yuen2016 G

SLC16A7

3-0432-000

chr12:
60129326-60129326

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SLC16A7

5-0077-003

chr12:
60821140-60821140

T

TAGACACACTC

intergenic

De novo

-

Yuen2017 G

SLC16A7

1-0446-003

chr12:
60225819-60225819

T

TG

intergenic

De novo

-

Yuen2017 G

SLC16A7

2-1215-003

chr12:
61677794-61677794

A

T

intergenic

De novo

-

Yuen2017 G

SLC16A7

2-1210-003

chr12:
61638517-61638522

TTTAAG

T

intergenic

De novo

-

Yuen2017 G

SLC16A7

2-1210-003

chr12:
60560804-60560804

G

GA

intergenic

De novo

-

Yuen2017 G

SLC16A7

A3

chr12:
60427268-60427268

G

A

intergenic

De novo

-

Wu2018 G

SLC16A7

1-0553-003

chr12:
61178625-61178625

G

C

intergenic

De novo

-

Yuen2017 G

SLC16A7

2-1350-003

chr12:
60225878-60225878

T

TG

intergenic

De novo

-

Yuen2017 G

SLC16A7

1-1004-003

chr12:
60950063-60950063

A

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

1-1004-003

chr12:
60945242-60945242

G

A

intergenic

De novo

-

Yuen2017 G

SLC16A7

3-0458-000B

chr12:
60769357-60769357

A

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

5-0114-003

chr12:
61440127-61440127

C

T

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU4347301

chr12:
61612510-61612512

TAA

TA

intergenic

De novo

-

Yuen2017 G

SLC16A7

13964.p1

chr12:
60219735-60219735

A

G

intergenic

De novo

-

Werling2018 G

SLC16A7

1-0253-004

chr12:
61521979-61521979

G

A

intergenic

De novo

-

Yuen2017 G

SLC16A7

1-0253-004

chr12:
60202495-60202495

A

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU4219302

chr12:
61150234-61150234

A

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU4306302

chr12:
60155353-60155353

C

A

intronic

De novo

-

Yuen2017 G

SLC16A7

1-0387-003

chr12:
60075039-60075039

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SLC16A7

2-1148-004

chr12:
60688031-60688031

T

A

intergenic

De novo

-

Yuen2017 G

SLC16A7

2-1407-003

chr12:
60440586-60440587

TG

T

intergenic

De novo

-

Yuen2017 G

SLC16A7

1-0196-005

chr12:
61565169-61565180

AAGGGAGGGAGG

AAGGGAGG

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU4054302

chr12:
60207654-60207654

A

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

74-0117

chr12:
61329558-61329558

G

A

intergenic

De novo

-

Michaelson2012 G

SLC16A7

2-0304-004

chr12:
61037221-61037221

C

T

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU4452302

chr12:
61217898-61217898

A

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

2-1626-003

chr12:
60548366-60548366

G

C

intergenic

De novo

-

Yuen2017 G

SLC16A7

1-0181-004

chr12:
61078422-61078423

TC

T

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU054304

chr12:
61874883-61874885

CTT

CT

intergenic

De novo

-

Yuen2017 G

SLC16A7

1-0325-003

chr12:
61973534-61973534

C

A

intergenic

De novo

-

Yuen2017 G

SLC16A7

1-0325-003

chr12:
60816591-60816591

C

T

intergenic

De novo

-

Yuen2017 G

SLC16A7

A30

chr12:
60965443-60965443

C

T

intergenic

De novo

-

Wu2018 G

SLC16A7

1-0200-004

chr12:
61507176-61507176

T

C

intergenic

De novo

-

Yuen2017 G

SLC16A7

1-0683-003

chr12:
61579937-61579937

A

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

1-0547-003

chr12:
60696242-60696242

C

A

intergenic

De novo

-

Yuen2017 G

SLC16A7

1-0289-003

chr12:
60225819-60225819

T

TG

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU3874303

chr12:
60501826-60501826

C

T

intergenic

De novo

-

Yuen2017 G

SLC16A7

1-0171-005

chr12:
62053526-62053526

T

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

2-0143-004

chr12:
61211844-61211844

C

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU3125301

chr12:
60373562-60373562

T

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU4093304

chr12:
61715999-61715999

T

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

2-1389-003

chr12:
61608532-61608532

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SLC16A7

7-0097-003

chr12:
62075772-62075772

C

A

intergenic

De novo

-

Yuen2017 G

SLC16A7

2-0002-005

chr12:
61001658-61001658

G

T

intergenic

De novo

-

Yuen2017 G

SLC16A7

1-0453-003

chr12:
60920101-60920101

C

T

intergenic

De novo

-

Yuen2017 G

SLC16A7

3-0458-000

chr12:
60769357-60769357

A

G

intergenic

De novo

-

Yuen2016 G

SLC16A7

AU072005

chr12:
60668092-60668092

G

A

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU2022302

chr12:
61109196-61109196

A

C

intergenic

De novo

-

Yuen2017 G

SLC16A7

1-0292-005

chr12:
62098682-62098682

A

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU2427303

chr12:
61132373-61132373

C

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU3122301

chr12:
60498879-60498879

G

A

intergenic

De novo

-

Yuen2017 G

SLC16A7

5-0065-003

chr12:
61404718-61404718

A

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU4462302

chr12:
60945536-60945536

A

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

5-0077-004

chr12:
60821140-60821140

T

TAGACACACTC

intergenic

De novo

-

Yuen2017 G

SLC16A7

14475_p1

chr12:
60173373-60173373

C

A

exonic

De novo

synonymous SNV

NM_004731
NM_001270622
NM_001270623

c.C1350A
c.C1350A
c.C1350A

p.P450P
p.P450P
p.P450P

-

Fu2022 E

SLC16A7

2-1440-003

chr12:
61990265-61990265

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SLC16A7

2-1128-003

chr12:
60769377-60769377

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SLC16A7

AU2075302

chr12:
61386281-61386281

T

C

intergenic

De novo

-

Yuen2017 G

SLC16A7

1-0372-003

chr12:
60806268-60806268

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SLC16A7

3-0392-000

chr12:
61411785-61411785

A

T

intergenic

De novo

-

Yuen2016 G

SLC16A7

3-0437-000

chr12:
61761216-61761216

C

T

intergenic

De novo

-

Yuen2016 G

SLC16A7

AU3713302

chr12:
60593641-60593641

G

C

intergenic

De novo

-

Yuen2017 G

SLC16A7

2-1254-003

chr12:
60334476-60334476

G

A

intergenic

De novo

-

Yuen2016 G

SLC16A7

14475.p1

chr12:
60173373-60173373

C

A

exonic

De novo

synonymous SNV

NM_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

5-0099-003

chr12:
60095264-60095267

TTCT

TT

intronic

De novo

-

Yuen2017 G

SLC16A7

AU027506

chr12:
61131067-61131067

G

A

intergenic

De novo

-

Yuen2017 G

SLC16A7

2-1348-003

chr12:
61162368-61162368

T

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU4412302

chr12:
61217986-61217986

C

A

intergenic

De novo

-

Yuen2017 G

SLC16A7

2-1254-003

chr12:
61190704-61190704

A

G

intergenic

De novo

-

Yuen2016 G

SLC16A7

AU4286302

chr12:
60691690-60691690

A

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

3-0458-000A

chr12:
60769357-60769357

A

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

2-1502-003

chr12:
61322189-61322189

G

A

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU4239301

chr12:
61228125-61228125

T

C

intergenic

De novo

-

Yuen2017 G

SLC16A7

iHART2284

chr12:
60168503-60168503

C

T

exonic

Paternal

stopgain

NM_004731
NM_001270622
NM_001270623

c.C427T
c.C427T
c.C427T

p.R143X
p.R143X
p.R143X

38.0

1.655E-5

Ruzzo2019 G

SLC16A7

1-0300-003

chr12:
60982973-60982973

A

C

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU3790301

chr12:
60603192-60603192

T

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU4032307

chr12:
61361294-61361294

A

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

iHART2285

chr12:
60168503-60168503

C

T

exonic

Paternal

stopgain

NM_004731
NM_001270622
NM_001270623

c.C427T
c.C427T
c.C427T

p.R143X
p.R143X
p.R143X

38.0

1.655E-5

Ruzzo2019 G

SLC16A7

AU011704

chr12:
61329558-61329558

G

A

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU4263304

chr12:
61459636-61459636

T

A

intergenic

De novo

-

Yuen2017 G

SLC16A7

2-1094-005

chr12:
61457198-61457198

A

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

1-0627-006

chr12:
60083109-60083109

T

C

intronic

De novo

-

Yuen2017 G

SLC16A7

AU047703

chr12:
60320764-60320764

A

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

1-0269-005

chr12:
61944994-61944994

G

A

intergenic

De novo

-

Yuen2017 G

SLC16A7

1-0563-003

chr12:
60634973-60634973

C

T

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU4093301

chr12:
61898470-61898470

T

C

intergenic

De novo

-

Yuen2017 G

SLC16A7

7-0251-003

chr12:
60258972-60258972

T

C

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU0638302

chr12:
61551573-61551573

A

G

intergenic

De novo

-

Yuen2017 G

SLC16A7

13171.p1

chr12:
60423177-60423177

A

G

intergenic

De novo

-

Turner2016 G

SLC16A7

1-0555-003

chr12:
61793993-61793993

T

A

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU3399302

chr12:
61645923-61645923

A

C

intergenic

De novo

-

Yuen2017 G

SLC16A7

ASD097

chr12:
60165042-60165042

C

T

exonic

De novo

nonsynonymous SNV

NM_004731
NM_001270622
NM_001270623

c.C260T
c.C260T
c.C260T

p.P87L
p.P87L
p.P87L

24.7

2.474E-5

Tran2020 E
Wu2019 E

SLC16A7

12498.p1

chr12:
61804650-61804650

G

C

intergenic

De novo

-

Turner2016 G

SLC16A7

AU046707

chr12:
60730582-60730582

T

C

intergenic

De novo

-

Yuen2017 G

SLC16A7

13649.p1

chr12:
60222560-60222560

T

C

intergenic

De novo

-

Turner2016 G

SLC16A7

12498.p1

chr12:
61804660-61804660

A

G

intergenic

De novo

-

Turner2016 G

SLC16A7

1-0546-003

chr12:
60794423-60794423

T

C

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU024004

chr12:
61158535-61158535

C

A

intergenic

De novo

-

Yuen2017 G

SLC16A7

AU050603

chr12:
61860572-61860572

A

T

intergenic

De novo

-

Yuen2017 G

SLC16A7

2-1369-003

chr12:
60044223-60044223

G

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SLC16A7

AU3881301

chr12:
60912253-60912253

T

C

intergenic

De novo

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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