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Results for "SLC26A7"

Variant Events: 31

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
SLC26A7     AU4242302chr8:
92603952-92603952
GAintergenicDe novo--Yuen2017 G
SLC26A7     7-0197-003chr8:
92300505-92300505
TGintronicDe novo--Yuen2017 G
SLC26A7     2-0016-003chr8:
92616053-92616053
AGintergenicDe novo--Yuen2017 G
SLC26A7     12498.p1chr8:
92805646-92805646
CAintergenicDe novo--Turner2016 G
SLC26A7     1-0344-003chr8:
92233543-92233543
TAintronicDe novo--Yuen2017 G
SLC26A7     2-1370-003chr8:
92617318-92617318
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
SLC26A7     AU0146301chr8:
92412026-92412026
GAintergenicDe novo--Yuen2017 G
SLC26A7     AU3175303chr8:
92306598-92306598
AGintronicDe novo--Yuen2017 G
SLC26A7     2-1183-003chr8:
92565096-92565096
TCintergenicDe novo--Yuen2017 G
SLC26A7     AU4093301chr8:
92623226-92623226
TGintergenicDe novo--Yuen2017 G
SLC26A7     AU3720302chr8:
92312480-92312480
TAintronicDe novo--Yuen2017 G
SLC26A7     1-0279-004chr8:
92408069-92408069
GGAATTTTGGTUTR3De novo--Yuen2017 G
SLC26A7     14396.p1chr8:
92330620-92330620
GAintronicDe novo-2.0E-4Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
SLC26A7     13045.p1chr8:
92406244-92406244
AGexonicDe novononsynonymous SNVNM_001282357
NM_052832
NM_134266
NM_001282356
c.A1009G
c.A1912G
c.A1912G
c.A1912G
p.I337V
p.I638V
p.I638V
p.I638V
1.969-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
SLC26A7     2-0320-003chr8:
92574781-92574781
CGintergenicDe novo--Yuen2017 G
SLC26A7     2-1526-003chr8:
92371651-92371651
ACintronicDe novo--Yuen2017 G
SLC26A7     AU0039303chr8:
92812435-92812435
CTintergenicDe novo--Yuen2017 G
SLC26A7     14652.p1chr8:
92735317-92735320
CTTGCintergenicDe novo--Wilfert2021 G
SLC26A7     1-0213-004chr8:
92715823-92715823
TCintergenicDe novo--Yuen2017 G
SLC26A7     2-1280-003chr8:
92801559-92801559
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
SLC26A7     AU3807302chr8:
92591465-92591465
GAintergenicDe novo--Yuen2017 G
SLC26A7     1-0345-003chr8:
92363133-92363133
GCintronicDe novo--Yuen2017 G
SLC26A7     AU2139305chr8:
92408008-92408008
AGUTR3De novo--Yuen2017 G
SLC26A7     2-0132-004chr8:
92464334-92464334
GAintergenicDe novo--Yuen2017 G
SLC26A7     AU3888302chr8:
92638137-92638137
CTintergenicDe novo--Yuen2017 G
SLC26A7     7-0250-003chr8:
92927399-92927399
CTintergenicDe novo--Yuen2017 G
SLC26A7     1-0213-003chr8:
92715823-92715823
TCintergenicDe novo--Yuen2016 G
SLC26A7     AU3911301chr8:
92934961-92934961
TCintergenicDe novo--Yuen2017 G
SLC26A7     1-0330-004chr8:
92792943-92792943
GAintergenicDe novo--Yuen2017 G
SLC26A7     03HI2710Achr8:
92382011-92382011
ATsplicingDe novosplicing14.35-Satterstrom2020 E
SLC26A7     1-0991-003chr8:
92435118-92435118
CTintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

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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