Variant Results

or

or

Results for "SLC26A1"

Variant Events: 14

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

SLC26A1

SP0053500

chr4:
982025-982025

G

A

UTR3

De novo

-

-

Fu2022 E

SLC26A1

iHART1905

chr4:
985303-985303

G

T

exonic

Paternal

stopgain

NM_022042
NM_134425
NM_213613

c.C189A
c.C189A
c.C189A

p.Y63X
p.Y63X
p.Y63X

25.2

-

Ruzzo2019 G

SLC26A1

SP0066425

chr4:
981845-981845

C

T

UTR3

De novo

-

-

Fu2022 E

SLC26A1

SSC04588

chr4:
983823-983823

C

A

exonic

De novo

nonsynonymous SNV

NM_022042
NM_213613

c.G904T
c.G904T

p.A302S
p.A302S

17.21

-

Fu2022 E
Lim2017 E

SLC26A1

5-0041-003

chr4:
983019-983019

C

G

exonic

De novo

nonsynonymous SNV

NM_022042
NM_213613

c.G1708C
c.G1708C

p.A570P
p.A570P

10.58

-

Yuen2017 G

SLC26A1

SP0052816

chr4:
983653-983653

C

T

exonic

De novo

synonymous SNV

NM_022042
NM_213613

c.G1074A
c.G1074A

p.S358S
p.S358S

-

Fu2022 E

SLC26A1

SP0060927

chr4:
984990-984990

T

C

exonic

De novo

nonsynonymous SNV

NM_022042
NM_134425
NM_213613

c.A502G
c.A502G
c.A502G

p.M168V
p.M168V
p.M168V

7.102

Fu2022 E

SLC26A1

iHART1901

chr4:
985303-985303

G

T

exonic

Paternal

stopgain

NM_022042
NM_134425
NM_213613

c.C189A
c.C189A
c.C189A

p.Y63X
p.Y63X
p.Y63X

25.2

-

Ruzzo2019 G

SLC26A1

iHART1879

chr4:
984964-984964

G

T

exonic

Paternal

stopgain

NM_022042
NM_134425
NM_213613

c.C528A
c.C528A
c.C528A

p.Y176X
p.Y176X
p.Y176X

28.7

Ruzzo2019 G

SLC26A1

12327.p1

chr4:
983823-983823

C

A

exonic

De novo

nonsynonymous SNV

NM_022042
NM_213613

c.G904T
c.G904T

p.A302S
p.A302S

17.21

-

Satterstrom2020 E

SLC26A1

1-0896-003

chr4:
985353-985353

G

A

exonic

De novo

nonsynonymous SNV

NM_022042
NM_134425
NM_213613

c.C139T
c.C139T
c.C139T

p.R47W
p.R47W
p.R47W

12.73

Yuen2017 G

SLC26A1

Kim2020:B27

chr4:
983867-983867

C

T

exonic

De novo

nonsynonymous SNV

NM_022042
NM_213613

c.G860A
c.G860A

p.R287H
p.R287H

7.965

Kim2020 E

SLC26A1

SP0093689

chr4:
985352-985352

C

T

exonic

De novo

nonsynonymous SNV

NM_022042
NM_134425
NM_213613

c.G140A
c.G140A
c.G140A

p.R47Q
p.R47Q
p.R47Q

14.17

Fu2022 E

SLC26A1

SP0113337

chr4:
984029-984029

C

T

exonic

De novo

nonsynonymous SNV

NM_022042
NM_213613

c.G698A
c.G698A

p.G233D
p.G233D

21.2

-

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
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