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Results for "SLC24A4"

Variant Events: 12

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
SLC24A4     iHART2991chr14:
92949044-92949044
ATexonicPaternalstopgainNM_153646
NM_153648
NM_153647
c.A1276T
c.A1084T
c.A1219T
p.K426X
p.K362X
p.K407X
39.0-Ruzzo2019 G
SLC24A4     1-0269-005chr14:
92937770-92937770
GAintronicDe novo--Yuen2017 G
SLC24A4     1-0568-003chr14:
92864827-92864827
GCintronicDe novo--Yuen2017 G
SLC24A4     1-0674-003chr14:
92904597-92904597
GAintronicDe novo--Yuen2017 G
SLC24A4     AU4286302chr14:
92927679-92927679
GTintronicDe novo--Yuen2017 G
SLC24A4     AU3885304chr14:
92860772-92860772
TGintronicDe novo--Yuen2017 G
SLC24A4     1842001chr14:
92958049-92958049
CTexonicDe novosynonymous SNVNM_153646
NM_153648
NM_153647
c.C1578T
c.C1386T
c.C1521T
p.N526N
p.N462N
p.N507N
8.2853.295E-5Satterstrom2020 E
SLC24A4     1-0571-003chr14:
92934210-92934210
ACintronicDe novo--Yuen2017 G
SLC24A4     1-0443-003chr14:
92859678-92859678
CAintronicDe novo--Yuen2016 G
SLC24A4     2-1693-003chr14:
92931407-92931407
TCintronicDe novo--Yuen2017 G
SLC24A4     2-1526-004chr14:
92921987-92921989
CGACintronicDe novo--Yuen2017 G
SLC24A4     3-0065-000chr14:
92852122-92852122
CGintronicDe novo--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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