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Results for "ZC3H18"

Variant Events: 8

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
ZC3H18     1-0255-003chr16:
88674341-88674341
TCintronicDe novo--Yuen2016 G
Yuen2017 G
ZC3H18     NDAR_INVPW419PR4_wes1chr16:
88690961-88690961
GTintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
ZC3H18     14039.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_144604
NM_001294340
NM_144604
NM_001294340
c.1981_1982insAAGCCAGGAGACCCTCGGG
c.2053_2054insAAGCCAGGAGACCCTCGGG
c.1980_1981insAAGCCAGGAGACCCTCGGG
c.2052_2053insAAGCCAGGAGACCCTCGGG
p.K661fs
p.K685fs
p.T660fs
p.T684fs
--Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
ZC3H18     AU4246304chr16:
88670725-88670725
CGintronicDe novo--Yuen2017 G
ZC3H18     AU3760301chr16:
88662383-88662383
CTintronicDe novo--Yuen2017 G
ZC3H18     2-0145-003chr16:
88638767-88638767
AGintronicDe novo--Yuen2017 G
ZC3H18     Codina-Sola2015:ASD_32chr16:
88677720-88677726
CGAGCGGCexonicMaternalnonframeshift deletionNM_144604
NM_001294340
c.1252_1257del
c.1324_1329del
p.418_419del
p.442_443del
-0.0061Codina-Sola2015 E
ZC3H18     09C80227chr16:
88675395-88675395
GAexonicDe novononsynonymous SNVNM_144604
NM_001294340
c.G1142A
c.G1214A
p.R381H
p.R405H
24.12.0E-4Satterstrom2020 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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