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Results for "CHD9"

Variant Events: 30

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
CHD9     2-1220-003chr16:
53176285-53176285
AGintronicDe novo--Yuen2016 G
Yuen2017 G
CHD9     80001101950chr16:
53358656-53358656
GCexonicDe novononsynonymous SNVNM_001308319
NM_025134
c.G8543C
c.G8495C
p.R2848T
p.R2832T
7.953-Lim2017 E
CHD9     G01-GEA-63-HIchr16:
53341704-53341704
AGexonicDe novononsynonymous SNVNM_001308319
NM_025134
c.A6892G
c.A6892G
p.T2298A
p.T2298A
18.63-Satterstrom2020 E
CHD9     2-1619-003chr16:
53286012-53286012
AATTTGTTintronicDe novo--Yuen2017 G
CHD9     Li2017:19799chr16:
53269101-53269101
GAexonicUnknownnonsynonymous SNVNM_001308319
NM_025134
c.G2516A
c.G2516A
p.R839H
p.R839H
32.0-Li2017 T
CHD9     AU015903chr16:
53092690-53092696
ACCCCCCACCCCCCCintronicDe novo--Yuen2017 G
CHD9     2-1295-003chr16:
53197419-53197419
GAintronicDe novo--Yuen2016 G
Yuen2017 G
CHD9     AU2458303chr16:
53150535-53150535
GAintronicDe novo--Yuen2017 G
CHD9     2-1581-003chr16:
53153654-53153654
TAintronicDe novo--Yuen2017 G
CHD9     A31chr16:
53386307-53386307
CTintergenicDe novo--Wu2018 G
CHD9     AU2140306chr16:
53247997-53247997
GAintronicDe novo--Yuen2017 G
CHD9     2-1619-004chr16:
53286012-53286012
AATTTGTTintronicDe novo--Yuen2017 G
CHD9     14464.p1chr16:
53263041-53263041
GCintronicDe novo--Satterstrom2020 E
CHD9     Li2017:20280chr16:
53191067-53191067
CTexonicUnknownnonsynonymous SNVNM_001308319
NM_025134
c.C1066T
c.C1066T
p.P356S
p.P356S
17.27-Li2017 T
CHD9     MR_2114chr16:
53301814-53301814
AGintronicDe novo-2.525E-5Satterstrom2020 E
CHD9     DEASD_0263_001chr16:
53281307-53281307
TAexonicDe novononsynonymous SNVNM_001308319
NM_025134
c.T3557A
c.T3557A
p.L1186H
p.L1186H
26.5-Satterstrom2020 E
CHD9     Li2017:23104chr16:
53262999-53262999
ATexonicUnknownnonsynonymous SNVNM_001308319
NM_025134
c.A2273T
c.A2273T
p.H758L
p.H758L
15.43-Li2017 T
CHD9     Li2017:18428chr16:
53331032-53331032
CAexonicUnknownnonsynonymous SNVNM_001308319
NM_025134
c.C5675A
c.C5675A
p.S1892Y
p.S1892Y
29.68.281E-6Li2017 T
CHD9     AU3649305chr16:
53301045-53301045
TAintronicDe novo--Yuen2017 G
CHD9     Li2017:20573chr16:
53338412-53338412
CTexonicUnknownnonsynonymous SNVNM_001308319
NM_025134
c.C6494T
c.C6494T
p.S2165F
p.S2165F
16.53-Li2017 T
CHD9     Li2017:16056chr16:
53269104-53269104
CTexonicUnknownnonsynonymous SNVNM_001308319
NM_025134
c.C2519T
c.C2519T
p.P840L
p.P840L
29.6-Li2017 T
CHD9     11572.p1chr16:
53249422-53249422
GAintronicDe novo--Turner2016 G
CHD9     1-0440-003chr16:
53399138-53399138
GTintergenicDe novo--Yuen2017 G
CHD9     5-0146-003chr16:
53247575-53247575
AGintronicDe novo--Yuen2017 G
CHD9     AU066404chr16:
53178638-53178638
ATintronicDe novo--Yuen2017 G
CHD9     13902.p1chr16:
53338351-53338351
TCexonicDe novononsynonymous SNVNM_001308319
NM_025134
c.T6433C
c.T6433C
p.S2145P
p.S2145P
15.93-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
CHD9     Li2017:20641chr16:
53326822-53326822
AGexonicUnknownnonsynonymous SNVNM_001308319
NM_025134
c.A5368G
c.A5368G
p.T1790A
p.T1790A
28.93.32E-5Li2017 T
CHD9     SSC10287chr16:
53338351-53338351
TCexonicDe novononsynonymous SNVNM_001308319
NM_025134
c.T6433C
c.T6433C
p.S2145P
p.S2145P
15.93-Lim2017 E
CHD9     A5chr16:
53190039-53190039
AGexonicDe novononsynonymous SNVNM_001308319
NM_025134
c.A38G
c.A38G
p.N13S
p.N13S
10.651.0E-4Wu2018 G
CHD9     2-1591-003chr16:
53388961-53388961
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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