Variant Results

or

Results for "CLCN7"

Variant Events: 16

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

CLCN7

SP0134223

chr16:
1499083-1499083

G

A

exonic

De novo

nonsynonymous SNV

NM_001114331
NM_001287

c.C1609T
c.C1681T

p.R537W
p.R561W

16.31

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CLCN7

mAGRE4949

chr16:
1524837-1524837

G

A

exonic

Maternal

stopgain

NM_001114331
NM_001287

c.C139T
c.C139T

p.Q47X
p.Q47X

26.1

-

Cirnigliaro2023 G

CLCN7

mAGRE5382

chr16:
1507266-1507266

G

A

exonic

Maternal

stopgain

NM_001114331
NM_001287

c.C739T
c.C811T

p.R247X
p.R271X

18.12

8.276E-6

Cirnigliaro2023 G

CLCN7

2220_17mr

chr16:
1500329-1500329

C

CAGGACAACGCCCACGGCCCGTGAACCACGCGAGGACAACGCCCACGGCCCGTGAACCACGCG

intronic

De novo

-

Fu2022 E

CLCN7

AU1725306

chr16:
1502796-1502796

C

T

exonic

De novo

nonsynonymous SNV

NM_001114331
NM_001287

c.G1241A
c.G1313A

p.C414Y
p.C438Y

17.06

-

Cirnigliaro2023 G

CLCN7

14037.p1

chr16:
1510938-1510938

C

T

exonic

De novo

synonymous SNV

NM_001114331
NM_001287

c.G291A
c.G363A

p.T97T
p.T121T

-

Krumm2015 E

CLCN7

SP0082612

chr16:
1500470-1500470

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

CLCN7

SP0010792

chr16:
1515256-1515256

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

CLCN7

SP0024323

chr16:
1510961-1510961

G

A

intronic

De novo

-

1.721E-5

Fu2022 E
Trost2022 G

CLCN7

4-0049-003

chr16:
1495385-1495385

G

A

UTR3

De novo

-

Trost2022 G

CLCN7

12515.p1

chr16:
1510886-1510886

G

T

exonic

De novo

nonsynonymous SNV

NM_001114331
NM_001287

c.C343A
c.C415A

p.L115I
p.L139I

24.3

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

CLCN7

SP0078989

chr16:
1505229-1505229

G

A

exonic

nonsynonymous SNV

NM_001114331
NM_001287

c.C932T
c.C1004T

p.T311M
p.T335M

16.67

-

Zhou2022 GE

CLCN7

2-0323-003

chr16:
1518233-1518234

CC

TG

intronic

De novo

-

Trost2022 G

CLCN7

SP0018345

chr16:
1502675-1502675

T

TC

intronic

De novo

-

Fu2022 E

CLCN7

SSC10053

chr16:
1510938-1510938

C

T

exonic

Mosaic

synonymous SNV

NM_001114331
NM_001287

c.G291A
c.G363A

p.T97T
p.T121T

-

Lim2017 E

CLCN7

SSC05092

chr16:
1510886-1510886

G

T

exonic

De novo

nonsynonymous SNV

NM_001114331
NM_001287

c.C343A
c.C415A

p.L115I
p.L139I

24.3

-

Fu2022 E
Lim2017 E
Trost2022 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
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