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Results for "SNAPC4"

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
SNAPC4     mAGRE2449chr9:
139272893-139272901
GCTGGGGCCGexonicMaternalframeshift deletionNM_003086c.3378_3385delp.R1126fs-3.091E-5Cirnigliaro2023 G
SNAPC4     111302chr9:
139279214-139279214
CTexonicnonsynonymous SNVNM_003086c.G1378Ap.E460K21.88.287E-6Woodbury-Smith2022 E
SNAPC4     AU3900301chr9:
139275162-139275162
TAintronicDe novo--Yuen2017 G
SNAPC4     SP0096205chr9:
139282206-139282206
CTexonicDe novosynonymous SNVNM_003086c.G1218Ap.P406P-2.481E-5Fu2022 E
Trost2022 G
Zhou2022 GE
SNAPC4     SP0001953chr9:
139282935-139282935
GAexonicDe novostopgainNM_003086c.C1084Tp.Q362X41.0-Fu2022 E
Trost2022 G
Zhou2022 GE
SNAPC4     SP0065656chr9:
139286615-139286615
CTintronicDe novo--Fu2022 E
Trost2022 G
SNAPC4     2-1567-003chr9:
139279074-139279074
CTintronicDe novo--Trost2022 G
Yuen2017 G
SNAPC4     SP0051072chr9:
139286393-139286393
CTsplicingDe novosplicing25.68.559E-6Fu2022 E
Trost2022 G
Zhou2022 GE
SNAPC4     MT_86.3chr9:
139285412-139285412
GAintronicDe novo--Trost2022 G
SNAPC4     iHART2449chr9:
139272893-139272901
GCTGGGGCCGexonicMaternalframeshift deletionNM_003086c.3378_3385delp.R1126fs-3.091E-5Ruzzo2019 G
SNAPC4     AU2387301chr9:
139270265-139270265
AGintronicDe novo--Trost2022 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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