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Results for "LDLRAD4"

Variant Events: 27

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
LDLRAD4     1-0591-003chr18:
13468149-13468149
CTintronicDe novo--Yuen2017 G
LDLRAD4     2-0122-004chr18:
13467318-13467318
ACintronicMaternal--Yuen2017 G
LDLRAD4     12793.p1chr18:
13435695-13435695
CAintronicDe novo--Turner2016 G
LDLRAD4     12529.p1chr18:
13495892-13495892
GTintronicDe novo--Turner2016 G
LDLRAD4     A6chr18:
13601922-13601922
CTintronicDe novo--Wu2018 G
LDLRAD4     1-0148-005chr18:
13276927-13276927
GAintronicDe novo--Yuen2017 G
LDLRAD4     1-0126-004chr18:
13391733-13391733
CTintronicDe novo--Yuen2017 G
LDLRAD4     1-0467-005chr18:
13295149-13295149
ATintronicDe novo--Yuen2017 G
LDLRAD4     1-0126-004chr18:
13250508-13250508
AGintronicDe novo--Yuen2017 G
LDLRAD4     08C72016chr18:
13645261-13645261
GAexonicDe novononsynonymous SNVNM_001003675
NM_001276251
NM_001003674
NM_001276249
NM_181481
NM_181482
c.G361A
c.G232A
c.G415A
c.G295A
c.G526A
c.G472A
p.D121N
p.D78N
p.D139N
p.D99N
p.D176N
p.D158N
27.0-Satterstrom2020 E
LDLRAD4     AU4029302chr18:
13587428-13587428
CTintronicDe novo--Yuen2017 G
LDLRAD4     2-1265-003chr18:
13520207-13520207
GAintronicDe novo--Yuen2016 G
Yuen2017 G
LDLRAD4     AU3727302chr18:
13515457-13515457
ACintronicDe novo--Yuen2017 G
LDLRAD4     AU3790302chr18:
13273290-13273290
CTintronicDe novo--Yuen2017 G
LDLRAD4     AU057404chr18:
13592932-13592932
GAintronicDe novo--Yuen2017 G
LDLRAD4     AU2140306chr18:
13661544-13661544
TCintergenicDe novo--Yuen2017 G
LDLRAD4     2-0045-003chr18:
13646697-13646697
ATUTR3De novo--Yuen2016 G
Yuen2017 G
LDLRAD4     AU079204chr18:
13277164-13277164
AGintronicDe novo--Yuen2017 G
LDLRAD4     AU1987301chr18:
13392727-13392727
TAintronicDe novo--Yuen2017 G
LDLRAD4     1-0218-004chr18:
13370910-13370910
AGintronicDe novo--Yuen2017 G
LDLRAD4     1-0898-003chr18:
13278261-13278261
CTintronicDe novo--Yuen2017 G
LDLRAD4     2-0033-003chr18:
13573323-13573323
CTintronicDe novo--Yuen2016 G
Yuen2017 G
LDLRAD4     2-1350-004chr18:
13446767-13446767
CTintronicDe novo--Yuen2017 G
LDLRAD4     2-1508-004chr18:
13551680-13551682
CAGCintronicDe novo--Yuen2017 G
LDLRAD4     2-0171-003chr18:
13314924-13314924
CTintronicDe novo--Yuen2017 G
LDLRAD4     AU3874303chr18:
13388766-13388766
CTintronicDe novo--Yuen2017 G
LDLRAD4     2-0122-003chr18:
13467318-13467318
ACintronicMaternal--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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