Variant Results

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Results for "SLC4A1"

Variant Events: 15

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

SLC4A1

14035_p1

chr17:
42331926-42331929

AAAC

A

exonic

De novo

nonframeshift deletion

NM_000342

c.1992_1994del

p.664_665del

-

-

Fu2022 E

SLC4A1

SP0037261

chr17:
42332445-42332445

C

A

intronic

De novo

-

-

Fu2022 E

SLC4A1

1-0487-003

chr17:
42350116-42350116

A

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

SLC4A1

SJD_50

chr17:
42335140-42335140

G

C

exonic

Maternal

nonsynonymous SNV

NM_000342

c.C1318G

p.L440V

17.27

Toma2013 E

SLC4A1

09C88928

chr17:
42340237-42340237

C

T

UTR5

De novo

-

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E

SLC4A1

1-0652-003

chr17:
42337693-42337693

C

T

intronic

De novo

-

-

Yuen2017 G

SLC4A1

3-0169-000

chr17:
42335477-42335477

G

A

exonic

De novo

nonsynonymous SNV

NM_000342

c.C1159T

p.R387W

13.29

Yuen2016 G

SLC4A1

14035.p1

chr17:
42331926-42331929

AAAC

A

exonic

De novo

nonframeshift deletion

NM_000342

c.1992_1994del

p.664_665del

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

SLC4A1

12444.p1

chr17:
42334859-42334859

G

A

exonic

De novo

synonymous SNV

NM_000342

c.C1485T

p.F495F

-

Krumm2015 E

SLC4A1

AU2072302

chr17:
42368092-42368098

ATTTTTT

ATTTTTTT

intergenic

De novo

-

-

Yuen2017 G

SLC4A1

EGAN00001100925

chr17:
42337759-42337759

C

T

intronic

De novo

-

-

Satterstrom2020 E

SLC4A1

2-1386-003

chr17:
42359321-42359321

G

C

intergenic

De novo

-

-

Yuen2017 G

SLC4A1

SP0003960

chr17:
42336619-42336619

C

T

exonic

De novo

nonsynonymous SNV

NM_000342

c.G788A

p.R263H

21.1

Fu2022 E

SLC4A1

SP0054427

chr17:
42331822-42331822

G

GCCAAC

intronic

De novo

-

-

Fu2022 E

SLC4A1

SP0042715

chr17:
42335884-42335884

G

A

exonic

De novo

synonymous SNV

NM_000342

c.C984T

p.S328S

-

Fu2022 E

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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