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Results for "SLC1A2"

Variant Events: 18

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
SLC1A2     1-0994-003chr11:
35324250-35324250
CTintronicDe novo--Trost2022 G
Yuen2017 G
SLC1A2     4-0100-003chr11:
35360478-35360478
GTintronicDe novo--Trost2022 G
SLC1A2     2-1734-004chr11:
35409035-35409035
CTintronicDe novo--Trost2022 G
SLC1A2     REACH000144chr11:
35328038-35328038
TGintronicDe novo--Trost2022 G
SLC1A2     5-5111-003chr11:
35344114-35344114
TGUTR5De novo--Trost2022 G
SLC1A2     5-0014-003chr11:
35340383-35340383
CAintronicDe novo--Trost2022 G
Yuen2017 G
SLC1A2     1-0555-003chr11:
35440331-35440331
AGintronicDe novo--Trost2022 G
Yuen2017 G
SLC1A2     2-1169-003chr11:
35430382-35430382
TAintronicDe novo--Trost2022 G
Yuen2017 G
SLC1A2     SP0044424chr11:
35338961-35338961
CTexonicDe novosynonymous SNVNM_004171
NM_001195728
NM_001252652
c.G120A
c.G93A
c.G93A
p.K40K
p.K31K
p.K31K
--Fu2022 E
Trost2022 G
Zhou2022 GE
SLC1A2     09C87038chr11:
35395749-35395765
CTGTGACTTGCTGGCTTCintronicDe novo--Neale2012 E
SLC1A2     3-0515-001chr11:
35410698-35410698
TAintronicDe novo--Trost2022 G
SLC1A2     AU1687303chr11:
35317408-35317408
GAintronicDe novo--Yuen2017 G
SLC1A2     SP0078544chr11:
35421088-35421088
TGintronicDe novo--Fu2022 E
SLC1A2     5-5040-003chr11:
35430918-35430918
AGintronicDe novo--Trost2022 G
SLC1A2     7-0194-003chr11:
35450000-35450000
CTintergenicDe novo--Yuen2017 G
SLC1A2     152652chr11:
35327662-35327662
AGexonicDe novononsynonymous SNVNM_004171
NM_001195728
NM_001252652
c.T689C
c.T662C
c.T662C
p.I230T
p.I221T
p.I221T
12.05-Fu2022 E
SLC1A2     5-0003-003chr11:
35425535-35425535
TCintronicDe novo--Yuen2017 G
SLC1A2     AU1687302chr11:
35317408-35317408
GAintronicDe novo--Trost2022 G
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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