or
or
Exact

Results for "LDLR"

Variant Events: 9

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
LDLR     3-0223-000chr19:
11213417-11213417
GAexonicDe novononsynonymous SNVNM_000527
NM_001195798
NM_001195800
NM_001195803
c.G268A
c.G268A
c.G268A
c.G268A
p.D90N
p.D90N
p.D90N
p.D90N
23.14.942E-5Tammimies2015 E
LDLR     Torti2019:10achr19:
11230819-11230819
CTexonicMaternalnonsynonymous SNVNM_001195800
NM_001195799
NM_001195803
NM_000527
NM_001195798
c.C1393T
c.C1774T
c.C1516T
c.C1897T
c.C1897T
p.R465C
p.R592C
p.R506C
p.R633C
p.R633C
14.24-Torti2019 T
LDLR     1-0175-003chr19:
11243015-11243015
GAUTR3De novo--Yuen2017 G
LDLR     AU4479301chr19:
11228632-11228632
GAintronicDe novo--Yuen2017 G
LDLR     12733.p1chr19:
11233938-11233938
CTexonicDe novosynonymous SNVNM_001195800
NM_001195803
NM_001195799
NM_000527
NM_001195798
c.C1725T
c.C1695T
c.C2106T
c.C2229T
c.C2229T
p.T575T
p.T565T
p.T702T
p.T743T
p.T743T
--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
LDLR     12317.p1chr19:
11230897-11230897
ACexonicDe novononsynonymous SNVNM_001195800
NM_001195799
NM_001195803
NM_000527
NM_001195798
c.A1471C
c.A1852C
c.A1594C
c.A1975C
c.A1975C
p.T491P
p.T618P
p.T532P
p.T659P
p.T659P
8.5932.0E-4Satterstrom2020 E
LDLR     EGAN00001101197chr19:
11222242-11222242
GAexonicDe novosynonymous SNVNM_001195800
NM_001195799
NM_001195803
NM_000527
NM_001195798
c.G609A
c.G990A
c.G732A
c.G1113A
c.G1113A
p.L203L
p.L330L
p.L244L
p.L371L
p.L371L
--Satterstrom2020 E
LDLR     1-0175-004chr19:
11243015-11243015
GAUTR3De novo--Yuen2017 G
LDLR     Torti2019:10bchr19:
11230819-11230819
CTexonicMaternalnonsynonymous SNVNM_001195800
NM_001195799
NM_001195803
NM_000527
NM_001195798
c.C1393T
c.C1774T
c.C1516T
c.C1897T
c.C1897T
p.R465C
p.R592C
p.R506C
p.R633C
p.R633C
14.24-Torti2019 T
Source Variant Information

, -

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
More