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Results for "EFCAB6"

Variant Events: 21

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
EFCAB6     2-0256-004chr22:
43987208-43987208
GAintronicDe novo--Yuen2017 G
EFCAB6     AU4473301chr22:
44157947-44157947
CTintronicDe novo--Yuen2017 G
EFCAB6     EGAN00001100954chr22:
44067862-44067862
TAexonicDe novononsynonymous SNVNM_198856
NM_022785
c.A1175T
c.A1631T
p.H392L
p.H544L
15.88-Satterstrom2020 E
EFCAB6     08C76846chr22:
44161149-44161149
AGintronicDe novo--Satterstrom2020 E
EFCAB6     AU3846302chr22:
44182663-44182663
TCintronicDe novo--Yuen2017 G
EFCAB6     12849.p1chr22:
44083347-44083347
AATTTTintronicDe novo--Satterstrom2020 E
EFCAB6     2-0102-003chr22:
43964707-43964707
GAintronicDe novo--Yuen2017 G
EFCAB6     iHART1256chr22:
44031082-44031082
AAGexonicMaternalframeshift insertionNM_198856
NM_022785
c.1541dupC
c.1997dupC
p.T514fs
p.T666fs
-8.24E-6Ruzzo2019 G
EFCAB6     AU4089301chr22:
44145011-44145011
GAintronicDe novo--Yuen2017 G
EFCAB6     12795.p1chr22:
44145659-44145659
CGintronicDe novo--Turner2016 G
EFCAB6     2-1290-004chr22:
44126117-44126117
AAGintronicDe novo--Yuen2017 G
EFCAB6     2-1335-004chr22:
44053337-44053347
GTTTTGGAAATGintronicDe novo--Yuen2017 G
EFCAB6     AU2792301chr22:
43993553-43993553
GAintronicDe novo--Yuen2017 G
EFCAB6     AU4462302chr22:
44171310-44171310
CTintronicDe novo--Yuen2017 G
EFCAB6     Cukier2014:37024chr22:
44004465-44004465
CTexonicUnknownnonsynonymous SNVNM_198856
NM_022785
c.G2122A
c.G2578A
p.D708N
p.D860N
17.30.0017Cukier2014 E
EFCAB6     1-0271-003chr22:
44126117-44126117
AAGintronicDe novo--Yuen2017 G
EFCAB6     AU3768302chr22:
44096381-44096381
CGintronicDe novo--Yuen2017 G
EFCAB6     2-1317-003chr22:
43988675-43988675
GTintronicDe novo--Yuen2016 G
Yuen2017 G
EFCAB6     AU3905302chr22:
44008305-44008305
CTintronicDe novo--Yuen2017 G
EFCAB6     5-0088-003chr22:
44022630-44022630
GAintronicDe novo--Yuen2017 G
EFCAB6     13125.p1chr22:
43933296-43933296
CTexonicDe novononsynonymous SNVNM_198856
NM_022785
c.G3553A
c.G4009A
p.V1185M
p.V1337M
11.634.12E-5Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 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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