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Results for "EHBP1"

Variant Events: 18

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     AU051Achr2:
63223946-63223946
GAintronicDe novo-1.662E-5Kosmicki2017 E
EHBP1     AU012803chr2:
62953393-62953393
GAintronicDe novo--Yuen2017 G
EHBP1     AU1894304chr2:
63255786-63255786
CGintronicDe novo--Yuen2017 G
EHBP1     1-0636-003chr2:
62993225-62993225
TCintronicDe novo--Yuen2017 G
EHBP1     2-1521-003chr2:
63255129-63255129
CTintronicDe novo--Yuen2017 G
EHBP1     2-1620-004chr2:
62900488-62900488
CGupstreamDe novo--Yuen2017 G
EHBP1     5-0033-004chr2:
62902962-62902978
ACTGCAGCCTCCACCTCAintronicDe novo--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     1-0142-005chr2:
63185178-63185178
GTintronicDe novo--Yuen2017 G
EHBP1     2-0242-005chr2:
63232311-63232311
AGintronicDe novo--Yuen2017 G
EHBP1     AU4089302chr2:
63225118-63225118
TGintronicDe novo--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
EHBP1     1-0458-003chr2:
63100066-63100066
AGintronicDe novo--Yuen2017 G
EHBP1     200675775@1082034220chr2:
63223942-63223942
GAintronicDe novo--Satterstrom2020 E
EHBP1     AU4394302chr2:
63253857-63253857
CAintronicDe novo--Yuen2017 G
EHBP1     AU4211304chr2:
62932775-62932775
GAintronicDe 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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