Variant Results

or

Results for "SLC4A5"

Variant Events: 32

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

SLC4A5

AU2381302

chr2:
74478593-74478593

C

A

intronic

De novo

-

Yuen2017 G

SLC4A5

AU3057301

chr2:
74460635-74460635

C

T

exonic

De novo

stopgain

NM_021196
NM_133478

c.G2489A
c.G2489A

p.W830X
p.W830X

39.0

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

SLC4A5

2-1359-004

chr2:
74586340-74586340

T

C

intergenic

De novo

-

Yuen2017 G

SLC4A5

mAGRE5947

chr2:
74448629-74448629

C

T

splicing

Maternal

splicing

18.09

2.472E-5

Cirnigliaro2023 G

SLC4A5

A21

chr2:
74446872-74446872

T

C

intronic

De novo

-

Wu2018 G

SLC4A5

AU4239301

chr2:
74584894-74584894

C

T

intergenic

De novo

-

Yuen2017 G

SLC4A5

mAGRE4576

chr2:
74531649-74531649

G

A

exonic

Paternal

stopgain

NM_021196
NM_133478

c.C238T
c.C238T

p.Q80X
p.Q80X

14.54

-

Cirnigliaro2023 G

SLC4A5

mAGRE4029

chr2:
74454259-74454259

T

C

splicing

Paternal

splicing

19.39

1.258E-5

Cirnigliaro2023 G

SLC4A5

mAGRE1014

chr2:
74454259-74454259

T

C

splicing

Paternal

splicing

19.39

1.258E-5

Cirnigliaro2023 G

SLC4A5

09C81170

chr2:
74483044-74483044

T

C

exonic

De novo

nonsynonymous SNV

NM_021196
NM_133478

c.A883G
c.A883G

p.M295V
p.M295V

15.29

-

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

SLC4A5

iHART1014

chr2:
74454259-74454259

T

C

splicing

Paternal

splicing

19.39

1.258E-5

Ruzzo2019 G

SLC4A5

1-0563-003

chr2:
74577247-74577247

T

G

intergenic

De novo

-

Yuen2017 G

SLC4A5

REACH000239

chr2:
74482715-74482715

T

C

intronic

De novo

-

Trost2022 G

SLC4A5

MSSNG00003-004

chr2:
74517942-74517942

C

T

intronic

De novo

-

Trost2022 G

SLC4A5

MT_189.3

chr2:
74443490-74443490

T

G

UTR3

De novo

-

Trost2022 G
Trost2022 G

SLC4A5

REACH000239

chr2:
74482712-74482712

A

G

intronic

De novo

-

Trost2022 G

SLC4A5

MAC1188

chr2:
74458313-74458313

G

A

intronic

De novo

-

8.355E-6

Satterstrom2020 E
Trost2022 G

SLC4A5

SP0034586

chr2:
74483002-74483002

C

T

exonic

De novo

nonsynonymous SNV

NM_021196
NM_133478

c.G925A
c.G925A

p.V309M
p.V309M

21.9

8.25E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

SLC4A5

SP0123783

chr2:
74454337-74454337

T

G

intronic

De novo

-

Fu2022 E

SLC4A5

SP0136258

chr2:
74448642-74448642

G

GA

intronic

De novo

-

Fu2022 E

SLC4A5

1-0408-003

chr2:
74558097-74558097

T

A

intronic

De novo

-

Trost2022 G

SLC4A5

AU003406

chr2:
74459298-74459298

C

A

intronic

De novo

-

Yuen2017 G

SLC4A5

1-0408-003

chr2:
74558106-74558106

G

T

intronic

De novo

-

Trost2022 G

SLC4A5

1-0253-004

chr2:
74542845-74542848

CAGA

TGGG

intronic

De novo

-

Trost2022 G

SLC4A5

1-0912-003

chr2:
74542845-74542848

CAGA

TGGG

intronic

De novo

-

Trost2022 G

SLC4A5

AU3368303

chr2:
74584206-74584206

T

C

intergenic

De novo

-

Yuen2017 G

SLC4A5

1-0956-003

chr2:
74542263-74542263

A

TAAATAAAATAACACAAAAGT

intronic

De novo

-

Trost2022 G

SLC4A5

1-0253-004

chr2:
74542836-74542842

ATACAAG

GCTTGAA

intronic

De novo

-

Trost2022 G

SLC4A5

AU2764301

chr2:
74533130-74533130

C

T

intronic

De novo

-

Trost2022 G

SLC4A5

2-1433-003

chr2:
74542263-74542263

A

TAAATAAAATAACACAAAAGT

intronic

De novo

-

Trost2022 G

SLC4A5

2-1330-003

chr2:
74497724-74497724

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SLC4A5

1-0408-003

chr2:
74558126-74558126

T

G

intronic

De novo

-

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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