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Results for "EXOC3L4"

Variant Events: 9

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
EXOC3L4     iHART1818chr14:
103566765-103566766
AGAexonicPaternalframeshift deletionNM_001077594c.210delGp.K70fs-1.86E-5Ruzzo2019 G
EXOC3L4     SP0124083chr14:
103576500-103576500
CTexonicDe novosynonymous SNVNM_001077594c.C2109Tp.R703R-1.0E-4Fu2022 E
Trost2022 G
Zhou2022 GE
EXOC3L4     AU1988302chr14:
103579486-103579486
GAintergenicDe novo--Yuen2017 G
EXOC3L4     ASC_CA_179_Achr14:
103576803-103576803
CCGGUTR3De novo--Fu2022 E
EXOC3L4     mAGRE5443chr14:
103566788-103566788
CTexonicMaternalstopgainNM_001077594c.C232Tp.R78X18.928.677E-5Cirnigliaro2023 G
EXOC3L4     mAGRE5101chr14:
103566765-103566766
AGAexonicPaternalframeshift deletionNM_001077594c.210delGp.K70fs-1.86E-5Cirnigliaro2023 G
EXOC3L4     mAGRE1818chr14:
103566765-103566766
AGAexonicPaternalframeshift deletionNM_001077594c.210delGp.K70fs-1.86E-5Cirnigliaro2023 G
EXOC3L4     SJD_27.3chr14:
103577226-103577226
GAdownstreamDe novo--Trost2022 G
EXOC3L4     1-0458-004chr14:
103575283-103575283
GCintronicDe novo--Trost2022 G
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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