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Results for "SLC7A7"

Variant Events: 10

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
SLC7A7     AU4173301chr14:
23266789-23266789
CTintronicDe novo--Yuen2017 G
SLC7A7     AU050403chr14:
23277753-23277753
CTintronicDe novo--Yuen2017 G
SLC7A7     12300.p1chr14:
23243580-23243580
GAexonicDe novostopgainNM_001126105
NM_001126106
c.C1228T
c.C1228T
p.R410X
p.R410X
38.01.648E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
SLC7A7     SP0012364chr14:
23243109-23243109
AGintronicDe novo-8.31E-6Fu2022 E
SLC7A7     A11056-3chr14:
23248047-23248047
CTexonicUnknownstopgainNM_001126105
NM_001126106
c.G725A
c.G725A
p.W242X
p.W242X
40.0-Li2017 T
SLC7A7     Li2017:18482chr14:
23248095-23248095
CTexonicUnknownnonsynonymous SNVNM_001126105
NM_001126106
c.G677A
c.G677A
p.G226D
p.G226D
28.5-Li2017 T
SLC7A7     iHART1286chr14:
23242894-23242895
ACAexonicMaternalframeshift deletionNM_001126105
NM_001126106
c.1460delG
c.1460delG
p.C487fs
p.C487fs
-1.648E-5Ruzzo2019 G
SLC7A7     12300_p1chr14:
23243580-23243580
GAexonicDe novostopgainNM_001126105
NM_001126106
c.C1228T
c.C1228T
p.R410X
p.R410X
38.01.648E-5Fu2022 E
SLC7A7     SP0056547chr14:
23249071-23249071
TCintronicDe novo--Fu2022 E
SLC7A7     14035.p1chr14:
23282218-23282218
GAexonicMosaicsynonymous SNVNM_001126105
NM_001126106
c.C390T
c.C390T
p.T130T
p.T130T
--Dou2017 E
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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