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Results for "SLC38A10"

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
SLC38A10     04C37819chr17:
79250915-79250915
GAexonicDe novosynonymous SNVNM_001037984
NM_138570
c.C645T
c.C645T
p.Y215Y
p.Y215Y
-8.294E-6Satterstrom2020 E
SLC38A10     iHART2440chr17:
79219382-79219386
CCTGTCexonicPaternalframeshift deletionNM_001037984c.3330_3333delp.R1110fs--Ruzzo2019 G
SLC38A10     2-1323-003chr17:
79225309-79225309
CTexonicDe novosynonymous SNVNM_001037984
NM_138570
c.G2049A
c.G2049A
p.A683A
p.A683A
-2.0E-4Yuen2016 G
SLC38A10     2-0303-004chr17:
79250915-79250915
GAexonicDe novosynonymous SNVNM_001037984
NM_138570
c.C645T
c.C645T
p.Y215Y
p.Y215Y
-8.294E-6Yuen2015 G
Yuen2017 G
SLC38A10     iHART3240chr17:
79226355-79226355
CAexonicPaternalstopgainNM_001037984
NM_138570
c.G1585T
c.G1585T
p.G529X
p.G529X
39.0-Ruzzo2019 G
SLC38A10     iHART2442chr17:
79219382-79219386
CCTGTCexonicPaternalframeshift deletionNM_001037984c.3330_3333delp.R1110fs--Ruzzo2019 G
SLC38A10     A11chr17:
79251747-79251747
GTintronicDe novo--Wu2018 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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