Variant Results

or

Results for "LDLR"

Variant Events: 15

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

3-0223-000

chr19:
11213417-11213417

G

A

exonic

De novo

nonsynonymous SNV

NM_000527
NM_001195798
NM_001195800
NM_001195803

c.G268A
c.G268A
c.G268A
c.G268A

p.D90N
p.D90N
p.D90N
p.D90N

23.1

4.942E-5

Tammimies2015 E
Trost2022 G
Zhou2022 GE

LDLR

AU4479301

chr19:
11228632-11228632

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

LDLR

12317.p1

chr19:
11230897-11230897

A

C

exonic

De novo

nonsynonymous SNV

NM_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

8.593

2.0E-4

Satterstrom2020 E

LDLR

EGAN00001101197

chr19:
11222242-11222242

G

A

exonic

De novo

synonymous SNV

NM_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

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

LDLR

MSSNG00414-003

chr19:
11234618-11234618

C

T

intronic

De novo

-

Trost2022 G

LDLR

SSC05431

chr19:
11230897-11230897

A

C

exonic

De novo

nonsynonymous SNV

NM_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

8.593

2.0E-4

Trost2022 G

LDLR

REACH000510

chr19:
11233389-11233389

G

A

intronic

De novo

-

Trost2022 G

LDLR

mAGRE4198

chr19:
11224300-11224300

G

A

exonic

Paternal

stopgain

NM_001195800
NM_001195799
NM_001195803
NM_000527
NM_001195798

c.G944A
c.G1325A
c.G1067A
c.G1448A
c.G1448A

p.W315X
p.W442X
p.W356X
p.W483X
p.W483X

37.0

-

Cirnigliaro2023 G

LDLR

Torti2019:10a

chr19:
11230819-11230819

C

T

exonic

Maternal

nonsynonymous SNV

NM_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

1-0175-003

chr19:
11243015-11243015

G

A

UTR3

De novo

-

Trost2022 G
Yuen2017 G

LDLR

12733.p1

chr19:
11233938-11233938

C

T

exonic

De novo

synonymous SNV

NM_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
Zhou2022 GE

LDLR

1-0175-004

chr19:
11243015-11243015

G

A

UTR3

De novo

-

Yuen2017 G

LDLR

Torti2019:10b

chr19:
11230819-11230819

C

T

exonic

Maternal

nonsynonymous SNV

NM_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

5-5131-003

chr19:
11230899-11230899

C

A

exonic

De novo

synonymous SNV

NM_001195800
NM_001195799
NM_001195803
NM_000527
NM_001195798

c.C1473A
c.C1854A
c.C1596A
c.C1977A
c.C1977A

p.T491T
p.T618T
p.T532T
p.T659T
p.T659T

-

3.0E-4

Trost2022 G
Zhou2022 GE

LDLR

SSC05872

chr19:
11233938-11233938

C

T

exonic

De novo

synonymous SNV

NM_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

-

Fu2022 E
Trost2022 G

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 notes	View
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