Variant Results

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Results for "LRP11"

Variant Events: 11

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

LRP11

14590.p1

chr6:
150164442-150164442

C

G

intronic

De novo

-

Turner2016 G

LRP11

08C75009

chr6:
150147290-150147290

G

A

intronic

De novo

-

2.0E-4

Satterstrom2020 E
Trost2022 G

LRP11

MSSNG00015-004

chr6:
150185066-150185066

A

G

exonic

De novo

nonsynonymous SNV

NM_032832

c.T91C

p.W31R

12.95

-

Trost2022 G
Zhou2022 GE

LRP11

Lim2017:6581

chr6:
150164130-150164130

T

G

exonic

De novo

nonsynonymous SNV

NM_032832

c.A902C

p.Y301S

11.27

-

Lim2017 E

LRP11

1-0201-004

chr6:
150163539-150163542

GACA

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRP11

DEASD_2055_001

chr6:
150158474-150158474

G

A

exonic

De novo

synonymous SNV

NM_032832

c.C1039T

p.L347L

-

8.268E-6

Fu2022 E

LRP11

6581

chr6:
150164130-150164130

T

G

exonic

De novo

nonsynonymous SNV

NM_032832

c.A902C

p.Y301S

11.27

-

Fu2022 E
Trost2022 G

LRP11

SP0140723

chr6:
150147394-150147394

A

C

intronic

De novo

-

Fu2022 E

LRP11

SP0061799

chr6:
150164252-150164252

T

C

exonic

De novo

synonymous SNV

NM_032832

c.A780G

p.Q260Q

-

8.246E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

LRP11

14201.p1

chr6:
150164130-150164130

T

G

exonic

De novo

nonsynonymous SNV

NM_032832

c.A902C

p.Y301S

11.27

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

LRP11

3-0336-000

chr6:
150168598-150168598

C

T

intronic

De novo

-

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
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