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Results for "SLCO6A1"

Variant Events: 16

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
SLCO6A1     AU3857301chr5:
101869556-101869556
CTintergenicDe novo--Yuen2017 G
SLCO6A1     2-1620-003chr5:
101857319-101857319
AACintergenicDe novo--Yuen2017 G
SLCO6A1     2-1502-003chr5:
101755748-101755748
CTintronicDe novo--Yuen2017 G
SLCO6A1     09C99936chr5:
101794242-101794242
ACintronicDe novo--Satterstrom2020 E
SLCO6A1     AU026604chr5:
101714361-101714361
AGintronicDe novo--Yuen2017 G
SLCO6A1     5-0077-004chr5:
101839600-101839600
GAintergenicDe novo--Yuen2017 G
SLCO6A1     2-1356-003chr5:
101732447-101732447
AGintronicDe novo--Yuen2016 G
Yuen2017 G
SLCO6A1     DEASD_1097_001chr5:
101815877-101815877
TCintronicDe novo--Satterstrom2020 E
SLCO6A1     2-1425-004chr5:
101912548-101912548
GGTTGTintergenicDe novo--Yuen2017 G
SLCO6A1     5-0071-003chr5:
101766914-101766914
TCintronicDe novo--Yuen2017 G
SLCO6A1     2-0068-003chr5:
101905617-101905617
TAintergenicDe novo--Yuen2017 G
SLCO6A1     PN400542chr5:
101735368-101735368
CTexonicDe novononsynonymous SNVNM_001308014
NM_001289004
NM_001289002
NM_173488
c.G946A
c.G1519A
c.G1705A
c.G1705A
p.G316R
p.G507R
p.G569R
p.G569R
11.364.954E-5Leblond2019 E
SLCO6A1     iHART1440chr5:
101811466-101811466
ACexonicPaternalstopgainNM_001289004
NM_001308014
NM_001289002
NM_173488
c.T648G
c.T648G
c.T834G
c.T834G
p.Y216X
p.Y216X
p.Y278X
p.Y278X
17.934.132E-5Ruzzo2019 G
SLCO6A1     5-0077-003chr5:
101839600-101839600
GAintergenicDe novo--Yuen2017 G
SLCO6A1     2-1690-003chr5:
101795928-101795928
CTintronicDe novo--Yuen2017 G
SLCO6A1     1-0636-003chr5:
101816769-101816769
TGintronicDe 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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