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Results for "EFHC1"

Variant Events: 8

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
EFHC1     Shi2013:2chr6:
52303274-52303274
GAexonicInheritednonsynonymous SNVNM_018100
NM_001172420
c.G458A
c.G401A
p.R153Q
p.R134Q
21.11.651E-5Shi2013 G
EFHC1     Shi2013:1chr6:
52303274-52303274
GAexonicInheritednonsynonymous SNVNM_018100
NM_001172420
c.G458A
c.G401A
p.R153Q
p.R134Q
21.11.651E-5Shi2013 G
EFHC1     SP0000573chr6:
52285232-52285232
CTexonicDe novosynonymous SNVNM_018100c.C24Tp.G8G--Feliciano2019 E
EFHC1     AU3911302chr6:
52310767-52310767
TGintronicDe novo--Yuen2017 G
EFHC1     iHART2070chr6:
52317558-52317558
CTexonicPaternalstopgainNM_018100
NM_001172420
c.C646T
c.C589T
p.R216X
p.R197X
36.02.471E-5Ruzzo2019 G
EFHC1     DEASD_0308_001chr6:
52285306-52285306
CTintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
EFHC1     AU2793302chr6:
52289998-52289998
CTintronicDe novo--Yuen2017 G
EFHC1     14163.p1chr6:
52317488-52317488
AGexonicDe novosynonymous SNVNM_018100
NM_001172420
c.A576G
c.A519G
p.V192V
p.V173V
--Krumm2015 E
Satterstrom2020 E
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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