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Results for "EHBP1"

Variant Events: 43

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
EHBP1     AU012803chr2:
62953393-62953393
GAintronicDe novo--Yuen2017 G
EHBP1     AU1894304chr2:
63255786-63255786
CGintronicDe novo--Trost2022 G
Yuen2017 G
EHBP1     2-1620-004chr2:
62900488-62900488
CGupstreamDe novo--Trost2022 G
Yuen2017 G
EHBP1     7-0255-003chr2:
62977611-62977611
TGintronicDe novo--Yuen2017 G
EHBP1     AU050604chr2:
63010062-63010062
CTintronicDe novo--Yuen2017 G
EHBP1     11456.p1chr2:
63240575-63240575
GAintronicDe novo--Turner2016 G
EHBP1     1-0458-003chr2:
63100066-63100066
AGintronicDe novo--Trost2022 G
Yuen2017 G
EHBP1     AU4394302chr2:
63253857-63253857
CAintronicDe novo--Trost2022 G
Yuen2017 G
EHBP1     AU4211304chr2:
62932775-62932775
GAintronicDe novo--Yuen2017 G
EHBP1     AU051Achr2:
63223946-63223946
GAintronicDe novo-1.662E-5Kosmicki2017 E
EHBP1     1-0636-003chr2:
62993225-62993225
TCintronicDe novo--Trost2022 G
Yuen2017 G
EHBP1     3-0475-000chr2:
62977688-62977688
AGintronicDe novo--Trost2022 G
EHBP1     1-0138-004chr2:
63022047-63022048
AATTintronicDe novo--Trost2022 G
EHBP1     MT_48.3chr2:
62939016-62939016
AGintronicDe novo--Trost2022 G
EHBP1     MSSNG00222-003chr2:
62951599-62951599
TCintronicDe novo--Trost2022 G
EHBP1     MSSNG00334-003chr2:
62932613-62932613
ACintronicDe novo--Trost2022 G
EHBP1     2-1521-003chr2:
63255129-63255129
CTintronicDe novo--Trost2022 G
Yuen2017 G
EHBP1     1044chr2:
62932654-62932654
TGintronicDe novo--Trost2022 G
EHBP1     MSSNG00247-003chr2:
62904191-62904191
GAintronicDe novo--Trost2022 G
EHBP1     5-0033-004chr2:
62902962-62902978
ACTGCAGCCTCCACCTCAintronicDe novo--Trost2022 G
Yuen2017 G
EHBP1     5-5001-003chr2:
62911701-62911701
CTintronicDe novo--Trost2022 G
EHBP1     1-0032-003chr2:
63129525-63129525
GAintronicDe novo--Trost2022 G
EHBP1     3-0295-000chr2:
63165559-63165559
AGintronicDe novo--Trost2022 G
EHBP1     2-1823-003chr2:
63077008-63077008
AGintronicDe novo--Trost2022 G
EHBP1     SP0040315chr2:
63085555-63085555
TCexonicDe novosynonymous SNVNM_015252c.T649Cp.L217L--Trost2022 G
EHBP1     SP0006428chr2:
63058299-63058299
TGintronicDe novo--Fu2022 E
Zhou2022 GE
EHBP1     2-0238-003chr2:
63061985-63061985
GAintronicDe novo--Trost2022 G
EHBP1     SP0043703chr2:
63058307-63058307
GAintronicDe novo-2.667E-5Fu2022 E
Trost2022 G
EHBP1     MSSNG00116-003chr2:
63073153-63073153
GTintronicDe novo--Trost2022 G
EHBP1     1-0142-005chr2:
63185178-63185178
GTintronicDe novo--Trost2022 G
Yuen2017 G
EHBP1     MSSNG00427-003chr2:
63050938-63050938
ACintronicDe novo--Trost2022 G
EHBP1     AU4273304chr2:
63061211-63061211
CTintronicDe novo--Trost2022 G
EHBP1     2-0242-005chr2:
63232311-63232311
AGintronicDe novo--Trost2022 G
Yuen2017 G
EHBP1     AU4089302chr2:
63225118-63225118
TGintronicDe novo--Trost2022 G
Yuen2017 G
EHBP1     SP0001272chr2:
63176110-63176110
GAexonicDe novononsynonymous SNVNM_001142614
NM_001142615
NM_001142616
NM_015252
c.G2129A
c.G2129A
c.G2129A
c.G2234A
p.C710Y
p.C710Y
p.C710Y
p.C745Y
1.1728.287E-6Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
EHBP1     1045chr2:
63260655-63260655
TGintronicDe novo--Trost2022 G
EHBP1     849_17auchr2:
63101563-63101563
CTexonicDe novostopgainNM_001142614
NM_001142615
NM_001142616
NM_015252
c.C1081T
c.C1081T
c.C1081T
c.C1186T
p.R361X
p.R361X
p.R361X
p.R396X
42.0-Fu2022 E
EHBP1     7-0402-003chr2:
63269607-63269607
ATintronicDe novo--Trost2022 G
EHBP1     200675775@1082034220chr2:
63223942-63223942
GAintronicDe novo--Satterstrom2020 E
Trost2022 G
EHBP1     MT_70.3chr2:
63231559-63231559
AGintronicDe novo--Trost2022 G
EHBP1     MSSNG00042-004chr2:
63238074-63238074
CTintronicDe novo--Trost2022 G
EHBP1     4-0077-003chr2:
63166621-63166621
GAintronicDe novo--Trost2022 G
EHBP1     MSSNG00397-003chr2:
63191031-63191031
GAintronicDe novo--Trost2022 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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