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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     2-1567-003chr12:
7612807-7612807
CAintergenicDe novo--Yuen2017 G
CD163L1     1-0144-004chr12:
7584435-7584435
GAintronicDe novo--Yuen2017 G
CD163L1     5-0003-003chr12:
7605226-7605226
AAGTTATTCATTGTGCintergenicDe novo--Yuen2017 G
CD163L1     iHART1707chr12:
7585305-7585305
AACexonicPaternalframeshift insertionNM_001297650
NM_174941
c.502dupG
c.472dupG
p.V168fs
p.V158fs
--Ruzzo2019 G
CD163L1     5-0003-004chr12:
7605226-7605226
AAGTTATTCATTGTGCintergenicDe novo--Yuen2017 G
CD163L1     AU4410302chr12:
7618790-7618790
GAintergenicDe novo--Yuen2017 G
CD163L1     iHART2533chr12:
7551135-7551137
CAGCexonicMaternalframeshift deletionNM_001297650
NM_174941
c.1482_1483del
c.1452_1453del
p.P494fs
p.P484fs
-5.991E-5Ruzzo2019 G
CD163L1     A26chr12:
7603402-7603402
ACintergenicDe novo--Wu2018 G
CD163L1     2-1152-003chr12:
7576480-7576480
GAintronicDe novo--Yuen2016 G
CD163L1     2-1313-003chr12:
7595330-7595330
GAintronicDe novo--Yuen2016 G
Yuen2017 G
CD163L1     10C100480chr12:
7510021-7510021
AAGexonicDe novoframeshift insertionNM_001297650
NM_174941
c.4370dupC
c.4340dupC
p.P1457fs
p.P1447fs
--DeRubeis2014 E
Kosmicki2017 E
CD163L1     DEASD_0149_001chr12:
7551094-7551094
TCexonicDe novononsynonymous SNVNM_001297650
NM_174941
c.A1525G
c.A1495G
p.T509A
p.T499A
16.02-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CD163L1     1-0526-003chr12:
7603968-7603968
AAGTGintergenicDe novo--Yuen2017 G
CD163L1     13725.p1chr12:
7551148-7551148
CTexonicDe novononsynonymous SNVNM_001297650
NM_174941
c.G1471A
c.G1441A
p.A491T
p.A481T
13.28-Ji2016 E
Krumm2015 E
CD163L1     13757.p1chr12:
7548904-7548904
TCexonicDe novononsynonymous SNVNM_001297650
NM_174941
c.A1867G
c.A1837G
p.N623D
p.N613D
0.1341.657E-5Satterstrom2020 E
CD163L1     iHART1747chr12:
7551074-7551074
CTexonicPaternalstopgainNM_001297650
NM_174941
c.G1545A
c.G1515A
p.W515X
p.W505X
17.11-Ruzzo2019 G
CD163L1     iHART2532chr12:
7551135-7551137
CAGCexonicMaternalframeshift deletionNM_001297650
NM_174941
c.1482_1483del
c.1452_1453del
p.P494fs
p.P484fs
-5.991E-5Ruzzo2019 G
CD163L1     iHART1748chr12:
7551074-7551074
CTexonicPaternalstopgainNM_001297650
NM_174941
c.G1545A
c.G1515A
p.W515X
p.W505X
17.11-Ruzzo2019 G
CD163L1     2-0272-004chr12:
7603968-7603968
AAGTGintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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