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Results for "EXOC1"

Variant Events: 11

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
EXOC1     1-0489-003chr4:
56753706-56753706
CTintronicDe novo--Yuen2017 G
EXOC1     Lim2017:5336chr4:
56756552-56756552
GTexonicMosaicnonsynonymous SNVNM_178237
NM_001024924
NM_018261
c.G1494T
c.G1539T
c.G1539T
p.K498N
p.K513N
p.K513N
26.5-Lim2017 E
EXOC1     PN400259chr4:
56762938-56762938
GAexonicUnknownnonsynonymous SNVNM_178237
NM_001024924
NM_018261
c.G1964A
c.G2009A
c.G2009A
p.G655E
p.G670E
p.G670E
29.20.0057Leblond2019 E
EXOC1     PN400371chr4:
56762938-56762938
GAexonicUnknownnonsynonymous SNVNM_178237
NM_001024924
NM_018261
c.G1964A
c.G2009A
c.G2009A
p.G655E
p.G670E
p.G670E
29.20.0057Leblond2019 E
EXOC1     PN400575chr4:
56762938-56762938
GAexonicUnknownnonsynonymous SNVNM_178237
NM_001024924
NM_018261
c.G1964A
c.G2009A
c.G2009A
p.G655E
p.G670E
p.G670E
29.20.0057Leblond2019 E
EXOC1     PN400576chr4:
56762938-56762938
GAexonicUnknownnonsynonymous SNVNM_178237
NM_001024924
NM_018261
c.G1964A
c.G2009A
c.G2009A
p.G655E
p.G670E
p.G670E
29.20.0057Leblond2019 E
EXOC1     11246.p1chr4:
56756552-56756552
GTexonicMosaic, De novononsynonymous SNVNM_178237
NM_001024924
NM_018261
c.G1494T
c.G1539T
c.G1539T
p.K498N
p.K513N
p.K513N
26.5-Dou2017 E
Ji2016 E
Krumm2015 E
Krupp2017 E
EXOC1     PN400407chr4:
56762938-56762938
GAexonicUnknownnonsynonymous SNVNM_178237
NM_001024924
NM_018261
c.G1964A
c.G2009A
c.G2009A
p.G655E
p.G670E
p.G670E
29.20.0057Leblond2019 E
EXOC1     iHART1734chr4:
56762889-56762890
CACexonicPaternalframeshift deletionNM_178237
NM_001024924
NM_018261
c.1916delA
c.1961delA
c.1961delA
p.Q639fs
p.Q654fs
p.Q654fs
-5.103E-5Ruzzo2019 G
EXOC1     13926.p1chr4:
56770707-56770707
ACUTR3De novo-1.683E-5Satterstrom2020 E
EXOC1     2-1241-003chr4:
56789493-56789493
GTintergenicDe 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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