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Results for "SLC38A6"

Variant Events: 34

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
SLC38A6     AU002406chr14:
61563194-61563194
AGintergenicDe novo--Yuen2017 G
SLC38A6     AU4173301chr14:
61659861-61659861
TCintergenicDe novo--Yuen2017 G
SLC38A6     1-0464-003chr14:
61578587-61578587
TCintergenicDe novo--Yuen2017 G
SLC38A6     13845.p1chr14:
61512160-61512160
GAintronicDe novo--Krumm2015 E
Satterstrom2020 E
SLC38A6     1-0382-004chr14:
61663426-61663426
CTintergenicDe novo--Yuen2017 G
SLC38A6     1-0158-012chr14:
61637217-61637217
GAintergenicDe novo--Yuen2017 G
SLC38A6     AU3703302chr14:
61500124-61500124
CTintronicDe novo--Yuen2017 G
SLC38A6     AU060803chr14:
61621053-61621053
TCintergenicDe novo--Yuen2017 G
SLC38A6     AU3874302chr14:
61570175-61570175
TAintergenicDe novo--Yuen2017 G
SLC38A6     12651.p1chr14:
61460044-61460044
AGintronicDe novo--Werling2018 G
SLC38A6     2-1738-003chr14:
61495175-61495175
GCintronicDe novo--Trost2022 G
Yuen2017 G
SLC38A6     mAGRE5010chr14:
61449241-61449242
CGCexonicPaternalframeshift deletionNM_001172702
NM_153811
c.122delG
c.122delG
p.R41fs
p.R41fs
-6.607E-5Cirnigliaro2023 G
SLC38A6     1-0161-003chr14:
61721168-61721168
CCAintergenicDe novo--Yuen2017 G
SLC38A6     2-1085-004chr14:
61578180-61578180
GAintergenicDe novo--Yuen2017 G
SLC38A6     2-0319-004chr14:
61598773-61598773
CAintergenicDe novo--Yuen2017 G
SLC38A6     SSC08754chr14:
61512160-61512160
GAintronicDe novo--Trost2022 G
SLC38A6     1-0458-003chr14:
61728937-61728937
TTAAAAAAAintergenicDe novo--Yuen2017 G
SLC38A6     AU030703chr14:
61731590-61731590
TCintergenicDe novo--Yuen2017 G
SLC38A6     MSSNG00033-003chr14:
61513370-61513370
AGintronicDe novo--Trost2022 G
SLC38A6     REACH000644chr14:
61480043-61480043
TGintronicDe novo--Trost2022 G
SLC38A6     1-0073-003chr14:
61481000-61481000
CAintronicDe novo--Yuen2017 G
SLC38A6     2-0307-004chr14:
61617396-61617396
GCintergenicDe novo--Yuen2017 G
SLC38A6     5-5123-004chr14:
61512117-61512117
AGexonicDe novononsynonymous SNVNM_001172702
NM_153811
c.A798G
c.A798G
p.I266M
p.I266M
13.26-Trost2022 G
SLC38A6     2-1644-003chr14:
61459475-61459476
CCATintronicDe novo--Trost2022 G
SLC38A6     10-1019-003chr14:
61469917-61469917
TGintronicDe novo--Trost2022 G
SLC38A6     2-1729-003chr14:
61450468-61450468
AGintronicDe novo--Trost2022 G
SLC38A6     3-0086-000chr14:
61455648-61455648
CTintronicDe novo--Trost2022 G
SLC38A6     AU3809302chr14:
61623029-61623031
ACCACintergenicDe novo--Yuen2017 G
SLC38A6     1-0252-003chr14:
61450907-61450912
ATTATTAintronicDe novo--Trost2022 G
Yuen2017 G
SLC38A6     REACH000182chr14:
61514002-61514002
TCintronicDe novo--Trost2022 G
SLC38A6     11456.p1chr14:
61613992-61613992
TGintergenicDe novo--Turner2016 G
SLC38A6     REACH000182chr14:
61548401-61548401
CCAAintronicDe novo--Trost2022 G
SLC38A6     SP0018164chr14:
61550510-61550510
CGdownstreamDe novo--Fu2022 E
Trost2022 G
SLC38A6     5-0033-004chr14:
61494333-61494333
CCCAGTTintronicDe novo--Trost2022 G
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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