Variant Results

or

or

Results for "CD163L1"

Variant Events: 19

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

CD163L1

2-1567-003

chr12:
7612807-7612807

C

A

intergenic

De novo

-

-

Yuen2017 G

CD163L1

1-0144-004

chr12:
7584435-7584435

G

A

intronic

De novo

-

-

Yuen2017 G

CD163L1

5-0003-003

chr12:
7605226-7605226

A

AGTTATTCATTGTGC

intergenic

De novo

-

-

Yuen2017 G

CD163L1

iHART1707

chr12:
7585305-7585305

A

AC

exonic

Paternal

frameshift insertion

NM_001297650
NM_174941

c.502dupG
c.472dupG

p.V168fs
p.V158fs

-

-

Ruzzo2019 G

CD163L1

5-0003-004

chr12:
7605226-7605226

A

AGTTATTCATTGTGC

intergenic

De novo

-

-

Yuen2017 G

CD163L1

AU4410302

chr12:
7618790-7618790

G

A

intergenic

De novo

-

-

Yuen2017 G

CD163L1

iHART2533

chr12:
7551135-7551137

CAG

C

exonic

Maternal

frameshift deletion

NM_001297650
NM_174941

c.1482_1483del
c.1452_1453del

p.P494fs
p.P484fs

-

Ruzzo2019 G

CD163L1

A26

chr12:
7603402-7603402

A

C

intergenic

De novo

-

-

Wu2018 G

CD163L1

2-1152-003

chr12:
7576480-7576480

G

A

intronic

De novo

-

-

Yuen2016 G

CD163L1

2-1313-003

chr12:
7595330-7595330

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

CD163L1

10C100480

chr12:
7510021-7510021

A

AG

exonic

De novo

frameshift insertion

NM_001297650
NM_174941

c.4370dupC
c.4340dupC

p.P1457fs
p.P1447fs

-

-

DeRubeis2014 E
Kosmicki2017 E

CD163L1

DEASD_0149_001

chr12:
7551094-7551094

T

C

exonic

De novo

nonsynonymous SNV

NM_001297650
NM_174941

c.A1525G
c.A1495G

p.T509A
p.T499A

16.02

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

CD163L1

1-0526-003

chr12:
7603968-7603968

A

AGTG

intergenic

De novo

-

-

Yuen2017 G

CD163L1

13725.p1

chr12:
7551148-7551148

C

T

exonic

De novo

nonsynonymous SNV

NM_001297650
NM_174941

c.G1471A
c.G1441A

p.A491T
p.A481T

13.28

-

Ji2016 E
Krumm2015 E

CD163L1

13757.p1

chr12:
7548904-7548904

T

C

exonic

De novo

nonsynonymous SNV

NM_001297650
NM_174941

c.A1867G
c.A1837G

p.N623D
p.N613D

0.134

Satterstrom2020 E

CD163L1

iHART1747

chr12:
7551074-7551074

C

T

exonic

Paternal

stopgain

NM_001297650
NM_174941

c.G1545A
c.G1515A

p.W515X
p.W505X

17.11

-

Ruzzo2019 G

CD163L1

iHART2532

chr12:
7551135-7551137

CAG

C

exonic

Maternal

frameshift deletion

NM_001297650
NM_174941

c.1482_1483del
c.1452_1453del

p.P494fs
p.P484fs

-

Ruzzo2019 G

CD163L1

iHART1748

chr12:
7551074-7551074

C

T

exonic

Paternal

stopgain

NM_001297650
NM_174941

c.G1545A
c.G1515A

p.W515X
p.W505X

17.11

-

Ruzzo2019 G

CD163L1

2-0272-004

chr12:
7603968-7603968

A

AGTG

intergenic

De novo

-

-

Yuen2017 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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