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Results for "CHD1L"

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
CHD1L     iHART1658chr1:
146737632-146737632
CTexonicMaternalstopgainNM_001256338
NM_001256336
NM_004284
NM_024568
c.C169T
c.C481T
c.C781T
c.C442T
p.R57X
p.R161X
p.R261X
p.R148X
29.81.65E-5Ruzzo2019 G
CHD1L     2-1485-003chr1:
146806319-146806319
CTintergenicDe novo--Yuen2017 G
CHD1L     ASC_CA_191_Achr1:
146759364-146759364
CTexonicDe novostopgainNM_001256338
NM_001256337
NM_001256336
NM_004284
NM_024568
c.C1660T
c.C1429T
c.C1972T
c.C2272T
c.C1933T
p.R554X
p.R477X
p.R658X
p.R758X
p.R645X
36.03.0E-4Satterstrom2020 E
CHD1L     2-1117-003chr1:
146793035-146793035
CTintergenicDe novo--Yuen2017 G
CHD1L     2-1702-003chr1:
146808220-146808220
TCintergenicDe novo--Yuen2017 G
CHD1L     1-0925-003chr1:
146753585-146753585
CGintronicDe novo--Yuen2017 G
CHD1L     AU1764301chr1:
146742647-146742647
AGexonicDe novosynonymous SNVNM_001256338
NM_001256337
NM_001256336
NM_004284
NM_024568
c.A528G
c.A297G
c.A840G
c.A1140G
c.A801G
p.Q176Q
p.Q99Q
p.Q280Q
p.Q380Q
p.Q267Q
--Yuen2017 G
CHD1L     13649.p1chr1:
146751400-146751400
CAintronicDe novo--Turner2016 G
CHD1L     08C74645chr1:
146763119-146763119
GAintronicDe novo--Satterstrom2020 E
CHD1L     13187.p1chr1:
146728216-146728216
CTexonicMosaicnonsynonymous SNVNM_001256336
NM_004284
NM_024568
c.C194T
c.C494T
c.C155T
p.S65L
p.S165L
p.S52L
14.85-Krupp2017 E
CHD1L     5-0095-003chr1:
146731307-146731307
AGintronicDe novo--Yuen2017 G
CHD1L     AU002405chr1:
146761506-146761506
GAintronicDe novo--Yuen2017 G
CHD1L     1-0381-003chr1:
146791661-146791661
CGintergenicDe novo--Yuen2017 G
CHD1L     2-1485-004chr1:
146806319-146806319
CTintergenicDe novo--Yuen2017 G
CHD1L     AU2100302chr1:
146841949-146841949
GAintergenicDe novo--Yuen2017 G
Source Variant Information

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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
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