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Results for "SLC17A6"

Variant Events: 7

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
SLC17A6     2-1690-003chr11:
22370000-22370000
TCintronicDe novo--Yuen2017 G
SLC17A6     SSC02165chr11:
22360097-22360097
AGexonicDe novosynonymous SNVNM_020346c.A18Gp.Q6Q--Lim2017 E
SLC17A6     11346.p1chr11:
22397637-22397637
TAexonicDe novosynonymous SNVNM_020346c.T1284Ap.S428S--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
SLC17A6     7-0192-003chr11:
22410494-22410495
ATAintergenicDe novo--Yuen2017 G
SLC17A6     11051.p1chr11:
22360097-22360097
AGexonicMosaic, De novosynonymous SNVNM_020346c.A18Gp.Q6Q--Dou2017 E
Krumm2015 E
Satterstrom2020 E
SLC17A6     AU4468301chr11:
22363542-22363542
GAintronicDe novo--Yuen2017 G
SLC17A6     AU231Achr11:
22381038-22381038
GAexonicDe novononsynonymous SNVNM_020346c.G538Ap.V180I35.0-Satterstrom2020 E
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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