Variant Results

or

Results for "SLC4A9"

Variant Events: 11

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

SLC4A9

5-1009-003

chr5:
139745587-139745587

A

G

exonic

nonsynonymous SNV

NM_001258426
NM_001258428
NM_031467

c.A1837G
c.A1951G
c.A1879G

p.S613G
p.S651G
p.S627G

19.42

-

Zhou2022 GE

SLC4A9

11969.p1

chr5:
139750705-139750705

G

A

exonic

Mosaic

nonsynonymous SNV

NM_001258427
NM_001258426
NM_001258428
NM_031467

c.G2264A
c.G2411A
c.G2525A
c.G2453A

p.G755D
p.G804D
p.G842D
p.G818D

31.0

-

Krupp2017 E

SLC4A9

SP0102715

chr5:
139745829-139745829

A

C

exonic

De novo

nonsynonymous SNV

NM_001258427
NM_001258426
NM_001258428
NM_031467

c.A1804C
c.A1951C
c.A2065C
c.A1993C

p.M602L
p.M651L
p.M689L
p.M665L

11.27

1.69E-5

Fu2022 E

SLC4A9

mAGRE4507

chr5:
139747064-139747064

G

A

exonic

Maternal

stopgain

NM_001258427
NM_001258426
NM_001258428
NM_031467

c.G1884A
c.G2031A
c.G2145A
c.G2073A

p.W628X
p.W677X
p.W715X
p.W691X

36.0

6.0E-4

Cirnigliaro2023 G

SLC4A9

72-0745

chr5:
139745591-139745591

G

A

exonic

Inherited

nonsynonymous SNV

NM_001258426
NM_001258428
NM_031467

c.G1841A
c.G1955A
c.G1883A

p.R614H
p.R652H
p.R628H

12.96

2.486E-5

Patowary2019 E

SLC4A9

1-0367-003

Complex Event; expand row to view variants

De novo

nonsynonymous SNV

NM_001258427
NM_001258426
NM_001258428
NM_031467
NM_001258427
NM_001258426
NM_001258428
NM_031467

c.T2465C
c.T2612C
c.T2726C
c.T2654C
c.A2464C
c.A2611C
c.A2725C
c.A2653C

p.I822T
p.I871T
p.I909T
p.I885T
p.I822L
p.I871L
p.I909L
p.I885L

18.0

-

Yuen2017 G
Yuen2017 G
Zhou2022 GE
Zhou2022 GE

SLC4A9

AU1987301

chr5:
139766921-139766921

G

A

intergenic

De novo

-

Yuen2017 G

SLC4A9

1-0627-007

chr5:
139744076-139744076

G

T

exonic

De novo

nonsynonymous SNV

NM_001258426
NM_001258427
NM_001258428
NM_031467

c.G1484T
c.G1517T
c.G1589T
c.G1517T

p.G495V
p.G506V
p.G530V
p.G506V

27.1

-

Yuen2017 G
Zhou2022 GE

SLC4A9

09C81988

chr5:
139751193-139751193

T

C

exonic

De novo

nonsynonymous SNV

NM_001258427
NM_001258426
NM_001258428
NM_031467

c.T2465C
c.T2612C
c.T2726C
c.T2654C

p.I822T
p.I871T
p.I909T
p.I885T

18.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SLC4A9

AU078503

chr5:
139753605-139753605

T

C

intronic

De novo

-

Trost2022 G

SLC4A9

AU3889305

chr5:
139738874-139738874

T

C

upstream

De novo

-

Trost2022 G
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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