Variant Results

or

Results for "SLC9C2"

Variant Events: 22

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

SLC9C2

IGM1571557

chr1:
173556892-173556892

A

C

exonic

De novo

nonsynonymous SNV

NM_178527

c.T435G

p.D145E

11.15

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SLC9C2

5-0009-003

chr1:
173495159-173495159

T

C

intronic

De novo

-

Trost2022 G

SLC9C2

09C87173

chr1:
173493166-173493166

A

G

exonic

De novo

nonsynonymous SNV

NM_178527

c.T2582C

p.I861T

7.386

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SLC9C2

1-1024-003

chr1:
173494327-173494327

T

C

intronic

De novo

-

Trost2022 G

SLC9C2

iHART2412

chr1:
173526564-173526564

C

T

exonic

Maternal

stopgain

NM_178527

c.G1130A

p.W377X

38.0

-

Ruzzo2019 G

SLC9C2

7-0326-003

chr1:
173542668-173542668

C

A

intronic

De novo

-

Trost2022 G

SLC9C2

iHART2409

chr1:
173526564-173526564

C

T

exonic

Maternal

stopgain

NM_178527

c.G1130A

p.W377X

38.0

-

Ruzzo2019 G

SLC9C2

SP0040514

chr1:
173526672-173526672

T

C

intronic

De novo

-

Trost2022 G

SLC9C2

MSSNG00067-003

chr1:
173477432-173477436

TTAAA

T

intronic

De novo

-

Trost2022 G

SLC9C2

7-0224-003

chr1:
173492244-173492244

C

T

intronic

De novo

-

Trost2022 G

SLC9C2

1-1158-003

chr1:
173478547-173478547

G

A

intronic

De novo

-

Trost2022 G

SLC9C2

mAGRE5920

chr1:
173523941-173523948

CATAGAGT

C

exonic

Paternal

frameshift deletion

NM_178527

c.1221_1227del

p.I407fs

-

Cirnigliaro2023 G

SLC9C2

SP0008211

chr1:
173570782-173570782

C

G

intronic

De novo

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SLC9C2

AU2777302

chr1:
173523941-173523948

CATAGAGT

C

exonic

Paternal

frameshift deletion

NM_178527

c.1221_1227del

p.I407fs

-

Cirnigliaro2023 G

SLC9C2

SP0000626

chr1:
173504830-173504830

A

G

intronic

De novo

-

Fu2022 E

SLC9C2

SP0041421

chr1:
173503629-173503629

T

C

exonic

De novo

synonymous SNV

NM_178527

c.A1968G

p.T656T

-

Fu2022 E
Zhou2022 GE

SLC9C2

13365.p1

chr1:
173490530-173490530

G

A

exonic

De novo

synonymous SNV

NM_178527

c.C2649T

p.A883A

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

SLC9C2

mAGRE2412

chr1:
173526564-173526564

C

T

exonic

Maternal

stopgain

NM_178527

c.G1130A

p.W377X

38.0

-

Cirnigliaro2023 G

SLC9C2

mAGRE2409

chr1:
173526564-173526564

C

T

exonic

Maternal

stopgain

NM_178527

c.G1130A

p.W377X

38.0

-

Cirnigliaro2023 G

SLC9C2

2-1180-003

chr1:
173484376-173484376

T

C

intronic

De novo

-

Yuen2017 G

SLC9C2

Lim2017:70327

chr1:
173490530-173490530

G

A

exonic

De novo

synonymous SNV

NM_178527

c.C2649T

p.A883A

-

Lim2017 E

SLC9C2

70327

chr1:
173490530-173490530

G

A

exonic

De novo

synonymous SNV

NM_178527

c.C2649T

p.A883A

-

Fu2022 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
Curation notes	View
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