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Results for "SLC26A1"

Variant Events: 25

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     SP0053500chr4:
982025-982025
GAUTR3De novo--Fu2022 E
Trost2022 G
Trost2022 G
SLC26A1     iHART1905chr4:
985303-985303
GTexonicPaternalstopgainNM_022042
NM_134425
NM_213613
c.C189A
c.C189A
c.C189A
p.Y63X
p.Y63X
p.Y63X
25.2-Ruzzo2019 G
SLC26A1     SP0066425chr4:
981845-981845
CTUTR3De novo--Fu2022 E
Trost2022 G
Trost2022 G
SLC26A1     5-0041-003chr4:
983019-983019
CGexonicDe novononsynonymous SNVNM_022042
NM_213613
c.G1708C
c.G1708C
p.A570P
p.A570P
10.58-Trost2022 G
Trost2022 G
Yuen2017 G
Zhou2022 GE
SLC26A1     SP0052816chr4:
983653-983653
CTexonicDe novosynonymous SNVNM_022042
NM_213613
c.G1074A
c.G1074A
p.S358S
p.S358S
-4.021E-5Fu2022 E
Trost2022 G
Trost2022 G
Zhou2022 GE
SLC26A1     SP0060927chr4:
984990-984990
TCexonicDe novononsynonymous SNVNM_022042
NM_134425
NM_213613
c.A502G
c.A502G
c.A502G
p.M168V
p.M168V
p.M168V
7.1029.176E-6Fu2022 E
Trost2022 G
Trost2022 G
Zhou2022 GE
SLC26A1     iHART1901chr4:
985303-985303
GTexonicPaternalstopgainNM_022042
NM_134425
NM_213613
c.C189A
c.C189A
c.C189A
p.Y63X
p.Y63X
p.Y63X
25.2-Ruzzo2019 G
SLC26A1     iHART1879chr4:
984964-984964
GTexonicPaternalstopgainNM_022042
NM_134425
NM_213613
c.C528A
c.C528A
c.C528A
p.Y176X
p.Y176X
p.Y176X
28.73.0E-4Ruzzo2019 G
SLC26A1     12327.p1chr4:
983823-983823
CAexonicDe novononsynonymous SNVNM_022042
NM_213613
c.G904T
c.G904T
p.A302S
p.A302S
17.21-Satterstrom2020 E
Zhou2022 GE
SLC26A1     2-0159-003chr4:
972530-972530
TCdownstreamDe novo--Trost2022 G
SLC26A1     2-0159-003chr4:
972535-972535
GAdownstreamDe novo--Trost2022 G
SLC26A1     SSC04588chr4:
983823-983823
CAexonicDe novononsynonymous SNVNM_022042
NM_213613
c.G904T
c.G904T
p.A302S
p.A302S
17.21-Fu2022 E
Lim2017 E
Trost2022 G
SLC26A1     3-0221-000chr4:
972482-972483
GGCAdownstreamDe novo--Trost2022 G
SLC26A1     2-1430-003Achr4:
979374-979374
CTintronicDe novo--Trost2022 G
SLC26A1     2-0159-003chr4:
972538-972539
CCGTdownstreamDe novo--Trost2022 G
SLC26A1     2-0159-003chr4:
972542-972546
TGGGCCAAGTdownstreamDe novo--Trost2022 G
SLC26A1     mAGRE1905chr4:
985303-985303
GTexonicPaternalstopgainNM_022042
NM_134425
NM_213613
c.C189A
c.C189A
c.C189A
p.Y63X
p.Y63X
p.Y63X
25.2-Cirnigliaro2023 G
SLC26A1     1-0896-003chr4:
985353-985353
GAexonicDe novononsynonymous SNVNM_022042
NM_134425
NM_213613
c.C139T
c.C139T
c.C139T
p.R47W
p.R47W
p.R47W
12.736.369E-5Trost2022 G
Trost2022 G
Yuen2017 G
Zhou2022 GE
SLC26A1     mAGRE1901chr4:
985303-985303
GTexonicPaternalstopgainNM_022042
NM_134425
NM_213613
c.C189A
c.C189A
c.C189A
p.Y63X
p.Y63X
p.Y63X
25.2-Cirnigliaro2023 G
SLC26A1     mAGRE1879chr4:
984964-984964
GTexonicPaternalstopgainNM_022042
NM_134425
NM_213613
c.C528A
c.C528A
c.C528A
p.Y176X
p.Y176X
p.Y176X
28.73.0E-4Cirnigliaro2023 G
SLC26A1     mAGRE1854chr4:
973244-973244
GAexonicMaternalstopgainNM_134425c.C625Tp.Q209X11.11.789E-5Cirnigliaro2023 G
SLC26A1     mAGRE1327chr4:
973244-973244
GAexonicPaternalstopgainNM_134425c.C625Tp.Q209X11.11.789E-5Cirnigliaro2023 G
SLC26A1     Kim2020:B27chr4:
983867-983867
CTexonicDe novononsynonymous SNVNM_022042
NM_213613
c.G860A
c.G860A
p.R287H
p.R287H
7.9653.547E-5Kim2020 E
SLC26A1     SP0093689chr4:
985352-985352
CTexonicDe novononsynonymous SNVNM_022042
NM_134425
NM_213613
c.G140A
c.G140A
c.G140A
p.R47Q
p.R47Q
p.R47Q
14.171.0E-4Fu2022 E
Trost2022 G
Trost2022 G
Zhou2022 GE
SLC26A1     SP0113337chr4:
984029-984029
CTexonicDe novononsynonymous SNVNM_022042
NM_213613
c.G698A
c.G698A
p.G233D
p.G233D
21.2-Fu2022 E
Trost2022 G
Trost2022 G
Zhou2022 GE
Source Variant Information

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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 notesView
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