Variant Results

or

Results for "SLC26A5"

Variant Events: 17

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

SLC26A5

MSSNG00369-005

chr7:
103010126-103010126

T

A

intronic

De novo

-

Trost2022 G
Trost2022 G

SLC26A5

mAGRE4572

chr7:
103038400-103038401

AC

A

exonic

Maternal

frameshift deletion

NM_001167962
NM_198999
NM_206883
NM_206884
NM_206885

c.949delG
c.949delG
c.949delG
c.949delG
c.949delG

p.V317fs
p.V317fs
p.V317fs
p.V317fs
p.V317fs

-

8.237E-6

Cirnigliaro2023 G

SLC26A5

7-0055-003

chr7:
103050837-103050837

C

A

exonic

De novo

nonsynonymous SNV

NM_001167962
NM_198999
NM_206883
NM_206884
NM_206885

c.G730T
c.G730T
c.G730T
c.G730T
c.G730T

p.V244L
p.V244L
p.V244L
p.V244L
p.V244L

14.54

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

SLC26A5

08C75209

chr7:
103061175-103061175

A

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

SLC26A5

3-0548-000

chr7:
103083093-103083093

T

C

intronic

De novo

-

Trost2022 G

SLC26A5

1-1024-003

chr7:
103064473-103064473

C

T

intronic

De novo

-

Trost2022 G

SLC26A5

MSSNG00452-003

chr7:
103066558-103066559

CA

C

intronic

De novo

-

Trost2022 G

SLC26A5

1-0928-003

chr7:
103013686-103013686

T

C

intronic

De novo

-

Trost2022 G

SLC26A5

AU049304

chr7:
103042511-103042511

G

A

intronic

De novo

-

Yuen2017 G

SLC26A5

1-1112-003

chr7:
103051559-103051559

A

G

intronic

De novo

-

Trost2022 G

SLC26A5

AU0039303

chr7:
103010911-103010915

TCATC

T

intronic

De novo

-

Trost2022 G

SLC26A5

AU3913302

chr7:
103012179-103012179

G

T

intronic

De novo

-

Trost2022 G

SLC26A5

5-0085-003

chr7:
103018886-103018886

C

A

intronic

De novo

-

Trost2022 G
Zhou2022 GE

SLC26A5

11336_p1

chr7:
103014942-103014942

G

C

exonic

De novo

nonsynonymous SNV

NM_001167962
NM_198999

c.C2043G
c.C2139G

p.S681R
p.S713R

11.38

-

Fu2022 E

SLC26A5

SP0017106

chr7:
103014907-103014907

G

A

exonic

De novo

nonsynonymous SNV

NM_001167962
NM_198999

c.C2078T
c.C2174T

p.S693L
p.S725L

12.29

8.247E-6

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

SLC26A5

3-0610-000

chr7:
103033455-103033455

T

C

exonic

De novo

nonsynonymous SNV

NM_001167962
NM_198999
NM_206883
NM_206884

c.A1030G
c.A1030G
c.A1030G
c.A1030G

p.I344V
p.I344V
p.I344V
p.I344V

13.81

-

Trost2022 G
Zhou2022 GE

SLC26A5

11336.p1

chr7:
103014942-103014942

G

C

exonic

De novo

nonsynonymous SNV

NM_001167962
NM_198999

c.C2043G
c.C2139G

p.S681R
p.S713R

11.38

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

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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