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Results for "SLC16A10"

Variant Events: 21

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
SLC16A10     2-1093-005chr6:
111576580-111576580
GAintergenicDe novo--Yuen2017 G
SLC16A10     10C104175chr6:
111493878-111493878
CTintronicDe novo-4.949E-5Kosmicki2017 E
Satterstrom2020 E
SLC16A10     2-1306-004chr6:
111576580-111576580
GAintergenicDe novo--Yuen2017 G
SLC16A10     2-0145-004chr6:
111576534-111576534
CGintergenicDe novo--Yuen2017 G
SLC16A10     1-0627-005chr6:
111551352-111551352
GAintergenicDe novo--Yuen2017 G
SLC16A10     AU4183301chr6:
111523099-111523099
TCintronicDe novo--Yuen2017 G
SLC16A10     2-1398-004chr6:
111576534-111576534
CGintergenicDe novo--Yuen2017 G
SLC16A10     2-1567-004chr6:
111576534-111576534
CGintergenicDe novo--Yuen2017 G
SLC16A10     1-0259-003chr6:
111576580-111576580
GAintergenicDe novo--Yuen2017 G
SLC16A10     2-0135-004chr6:
111576534-111576534
CGintergenicDe novo--Yuen2017 G
SLC16A10     2-0144-003chr6:
111576534-111576534
CGintergenicDe novo--Yuen2017 G
SLC16A10     2-1406-003chr6:
111545339-111545339
GAdownstreamDe novo--Yuen2016 G
Yuen2017 G
SLC16A10     SSC03297chr6:
111540158-111540158
TAexonicDe novononsynonymous SNVNM_018593c.T1228Ap.L410I15.05-Lim2017 E
SLC16A10     11800.p1chr6:
111540158-111540158
TAexonicDe novononsynonymous SNVNM_018593c.T1228Ap.L410I15.05-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
SLC16A10     1-0296-004chr6:
111576580-111576580
GAintergenicDe novo--Yuen2017 G
SLC16A10     1-0569-003chr6:
111482798-111482798
CAintronicDe novo--Yuen2017 G
SLC16A10     1-0191-004chr6:
111576580-111576580
GAintergenicDe novo--Yuen2017 G
SLC16A10     11615.p1chr6:
111494786-111494786
CTintronicDe novo--Werling2018 G
SLC16A10     1-0329-004chr6:
111576534-111576534
CGintergenicDe novo--Yuen2017 G
SLC16A10     2-1174-005Bchr6:
111576580-111576580
GAintergenicDe novo--Yuen2017 G
SLC16A10     2-0063-005chr6:
111477471-111477471
GAintronicDe novo--Yuen2017 G
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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