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Results for "LIPG"

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
LIPG     2-0110-003chr18:
47241498-47241498
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
LIPG     11818.p1chr18:
47047974-47047974
GAintergenicDe novo--Werling2018 G
LIPG     3-0432-000chr18:
47172868-47172868
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
LIPG     1-0965-003chr18:
47255231-47255231
AGintergenicDe novo--Yuen2017 G
LIPG     1-0526-003chr18:
47272423-47272423
TCintergenicDe novo--Yuen2017 G
LIPG     7-0012-003chr18:
47277165-47277165
GTintergenicDe novo--Yuen2017 G
LIPG     MSSNG00352-004chr18:
47102209-47102209
TGintronicDe novo--Trost2022 G
LIPG     SP0015245chr18:
47091746-47091746
CTexonicDe novononsynonymous SNVNM_001308006
NM_006033
c.C157T
c.C157T
p.L53F
p.L53F
11.61-Fu2022 E
Trost2022 G
Zhou2022 GE
LIPG     2-1085-003chr18:
47027773-47027773
CTintergenicDe novo--Yuen2017 G
LIPG     2-0143-004chr18:
47100928-47100930
ACTAintronicDe novo--Trost2022 G
Yuen2017 G
LIPG     1-0022-004chr18:
47092900-47092900
TAintronicDe novo--Trost2022 G
Yuen2017 G
LIPG     2-1361-003chr18:
47119894-47119894
ATdownstreamDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
LIPG     SP0088794 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
LIPG     3-0442-000chr18:
47266005-47266019
TTCTCTCTCTCTCTCTTCTCTCTCTCTCintergenicDe novo--Yuen2017 G
LIPG     1-0022-003chr18:
47092900-47092900
TAintronicDe novo--Yuen2016 G
LIPG     X3N7Y_01chr18:
47123036-47123036
GAintergenicDe novo--Trost2022 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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