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Results for "SLCO5A1"

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
SLCO5A1     A26chr8:
70755955-70755955
GAintergenicDe novo--Wu2018 G
SLCO5A1     2-1561-003chr8:
70943343-70943343
TCintergenicDe novo--Yuen2017 G
SLCO5A1     13023.p1chr8:
70668091-70668091
TCintronicDe novo--Turner2016 G
SLCO5A1     AU4479301chr8:
70751075-70751075
TCintergenicDe novo--Yuen2017 G
SLCO5A1     AU4479301chr8:
70751115-70751115
GAintergenicDe novo--Yuen2017 G
SLCO5A1     AU4433301chr8:
70779798-70779798
GAintergenicDe novo--Yuen2017 G
SLCO5A1     1-0436-003chr8:
70762428-70762428
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
SLCO5A1     1-0560-003chr8:
70697332-70697348
GGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAintronicDe novo--Yuen2017 G
SLCO5A1     2-1132-003chr8:
70673466-70673466
CTintronicDe novo--Yuen2017 G
SLCO5A1     5-0095-003chr8:
70950924-70950924
GAintergenicDe novo--Yuen2017 G
SLCO5A1     74-0481chr8:
70650428-70650428
CTexonicInheritednonsynonymous SNVNM_001146008
NM_030958
c.G1270A
c.G1270A
p.A424T
p.A424T
33.0-Patowary2019 E
SLCO5A1     1-0323-004chr8:
70957943-70957943
GAintergenicDe novo--Yuen2017 G
SLCO5A1     1-0019-004chr8:
70647541-70647541
GAintronicDe novo--Yuen2017 G
SLCO5A1     A8chr8:
70783948-70783948
CTintergenicDe novo--Wu2018 G
SLCO5A1     1-0563-003chr8:
70935515-70935515
AGintergenicDe novo--Yuen2017 G
SLCO5A1     2-0007-004chr8:
70909247-70909247
TAintergenicDe novo--Yuen2017 G
SLCO5A1     2-1359-004chr8:
70632952-70632952
GAintronicDe novo--Yuen2017 G
SLCO5A1     5-0111-003chr8:
70754069-70754075
AGGCAGCAintergenicDe 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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