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Results for "SLC4A4"

Variant Events: 39

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
SLC4A4     7-0322-003chr4:
72402940-72402940
GAintronicDe novo--Trost2022 G
SLC4A4     1-0377-003chr4:
72240948-72240948
GAintronicDe novo--Yuen2017 G
SLC4A4     MSSNG00257-005chr4:
72427641-72427641
ATintronicDe novo--Trost2022 G
SLC4A4     MSSNG00026-003chr4:
72347605-72347605
AGintronicDe novo--Trost2022 G
SLC4A4     7-0322-003chr4:
72402832-72402832
AGintronicDe novo--Trost2022 G
SLC4A4     2-1763-003chr4:
72257490-72257490
CTintronicDe novo--Trost2022 G
SLC4A4     2-0162-003chr4:
72262070-72262070
ACintronicDe novo--Trost2022 G
SLC4A4     4-0073-003chr4:
72127019-72127020
TTAAintronicDe novo--Trost2022 G
SLC4A4     2-1410-003chr4:
72199524-72199524
CGintronicDe novo--Trost2022 G
SLC4A4     2-1626-003chr4:
72415528-72415532
TCACCTCintronicDe novo--Yuen2017 G
SLC4A4     1-0289-004chr4:
72143654-72143654
CTintronicDe novo--Trost2022 G
Yuen2017 G
SLC4A4     SMHC00834s000chr4:
72400094-72400094
CTexonicDe novononsynonymous SNVNM_003759
NM_001098484
NM_001134742
c.C2299T
c.C2431T
c.C2431T
p.H767Y
p.H811Y
p.H811Y
17.01-Yuan2023 E
SLC4A4     12907.p1chr4:
72352706-72352706
TGexonicDe novononsynonymous SNVNM_003759
NM_001098484
NM_001134742
c.T1813G
c.T1945G
c.T1945G
p.Y605D
p.Y649D
p.Y649D
0.008-Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
SLC4A4     1-0352-005chr4:
72170259-72170259
CTintronicDe novo--Trost2022 G
Yuen2017 G
SLC4A4     2-1480-003chr4:
72547352-72547352
TCintergenicDe novo--Yuen2017 G
SLC4A4     SSC06345chr4:
72352706-72352706
TGexonicDe novononsynonymous SNVNM_003759
NM_001098484
NM_001134742
c.T1813G
c.T1945G
c.T1945G
p.Y605D
p.Y649D
p.Y649D
0.008-Fu2022 E
Lim2017 E
Trost2022 G
SLC4A4     AU2293302chr4:
72425183-72425183
GAintronicDe novo--Trost2022 G
Yuen2017 G
SLC4A4     ASC_CA_161_Achr4:
72399990-72399990
AGexonicDe novononsynonymous SNVNM_003759
NM_001098484
NM_001134742
c.A2195G
c.A2327G
c.A2327G
p.N732S
p.N776S
p.N776S
27.2-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SLC4A4     A8chr4:
72518355-72518355
CTintergenicDe novo--Wu2018 G
SLC4A4     74-0115chr4:
72552687-72552687
AGintergenicDe novo--Michaelson2012 G
SLC4A4     AU4199303chr4:
72554759-72554759
ATintergenicDe novo--Yuen2017 G
SLC4A4     3-0442-000chr4:
72240137-72240137
ATintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SLC4A4     2-1325-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
SLC4A4     14637.p1chr4:
72090013-72090013
CTintronicDe novo--Turner2016 G
SLC4A4     1-0512-003chr4:
72511542-72511542
AGintergenicDe novo--Yuen2017 G
SLC4A4     SP0065831chr4:
72205111-72205111
GAexonicDe novononsynonymous SNVNM_003759
NM_001098484
NM_001134742
c.G146A
c.G278A
c.G278A
p.R49Q
p.R93Q
p.R93Q
12.51-Fu2022 E
Trost2022 G
Zhou2022 GE
SLC4A4     2-0272-003chr4:
72559632-72559632
CTintergenicDe novo--Yuen2017 G
SLC4A4     AU3811305chr4:
72408807-72408807
AGintronicDe novo--Trost2022 G
Yuen2017 G
SLC4A4     Wang2023:834chr4:
72400094-72400094
CTexonicDe novononsynonymous SNVNM_003759
NM_001098484
NM_001134742
c.C2299T
c.C2431T
c.C2431T
p.H767Y
p.H811Y
p.H811Y
17.01-Wang2023 E
SLC4A4     1-0352-003chr4:
72170259-72170259
CTintronicDe novo--Yuen2016 G
SLC4A4     1-0445-003chr4:
72288550-72288550
TCintronicDe novo--Yuen2017 G
SLC4A4     2-1066-003chr4:
72498352-72498352
ACintergenicDe novo--Yuen2017 G
SLC4A4     AU3997302chr4:
72418389-72418389
TCintronicDe novo--Trost2022 G
Yuen2017 G
SLC4A4     4-0077-003chr4:
72127019-72127020
TTAAintronicDe novo--Trost2022 G
SLC4A4     4-0062-003chr4:
72127019-72127020
TTAAintronicDe novo--Trost2022 G
SLC4A4     5-5077-003chr4:
72100181-72100181
CTintronicDe novo--Trost2022 G
SLC4A4     7-0227-003chr4:
72103500-72103500
CTintronicDe novo--Trost2022 G
SLC4A4     1-0541-003chr4:
72205985-72205985
AGintronicDe novo--Trost2022 G
Yuen2017 G
SLC4A4     1-1162-003chr4:
72079401-72079401
CTintronicDe novo--Trost2022 G
Source Variant Information

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Paper alias:

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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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