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Results for "EXOC1"

Variant Events: 17

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     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     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
Zhou2022 GE
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     6248chr4:
56770707-56770707		ACUTR3De novo-1.683E-5Trost2022 G
EXOC1     SP0006872chr4:
56743569-56743569		AGintronicDe novo--Trost2022 G
EXOC1     1-0753-003chr4:
56756679-56756679		CAintronicDe novo--Trost2022 G
EXOC1     1-0489-003chr4:
56753706-56753706		CTintronicDe novo--Trost2022 G
Yuen2017 G
EXOC1     mAGRE4303chr4:
56765977-56765981		CCAAACexonicPaternalframeshift deletionNM_178237
NM_001024924
NM_018261		c.2220_2223del
c.2265_2268del
c.2265_2268del		p.A740fs
p.A755fs
p.A755fs		--Cirnigliaro2023 G
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     mAGRE1734chr4:
56762889-56762890		CACexonicPaternalframeshift deletionNM_178237
NM_001024924
NM_018261		c.1916delA
c.1961delA
c.1961delA		p.Q639fs
p.Q654fs
p.Q654fs		-5.103E-5Cirnigliaro2023 G
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     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     SP0078543chr4:
56758921-56758926		CTTTAACintronicDe novo--Fu2022 E
EXOC1     2-1241-003chr4:
56789493-56789493		GTintergenicDe novo--Yuen2017 G
Source Variant Information

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Paper alias:

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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.
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