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Results for "KIAA0556"

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
KIAA0556     iHART2086chr16:
27772796-27772796
GTexonicPaternalstopgainNM_015202c.G3694Tp.E1232X42.01.649E-5Ruzzo2019 G
KIAA0556     1-0565-003chr16:
27795054-27795054
CTintergenicDe novo--Yuen2017 G
KIAA0556     12536.p1chr16:
27692808-27692808
CAexonicDe novosynonymous SNVNM_015202c.C897Ap.P299P--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
KIAA0556     5-0054-003chr16:
27600674-27600674
GAintronicDe novo--Yuen2017 G
KIAA0556     AU3680301chr16:
27632105-27632105
AGintronicDe novo--Yuen2017 G
KIAA0556     AU047704chr16:
27569198-27569198
TCintronicDe novo--Yuen2017 G
KIAA0556     2-0006-004chr16:
27572171-27572171
AGintronicDe novo--Yuen2017 G
KIAA0556     AU0146301chr16:
27787701-27787701
CTintronicDe novo--Yuen2017 G
KIAA0556     AU056005chr16:
27589107-27589107
TGintronicDe novo--Yuen2017 G
KIAA0556     A12009-2chr16:
27784529-27784530
CACexonicUnknownframeshift deletionNM_015202c.4309delAp.N1437fs--Li2017 T
KIAA0556     3-0246-000chr16:
27759494-27759494
GAintronicDe novo--Yuen2016 G
Yuen2017 G
KIAA0556     13349.p1chr16:
27692862-27692862
CTintronicDe novo-9.946E-5Krumm2015 E
Satterstrom2020 E
KIAA0556     A19chr16:
27784529-27784530
CACexonicDe novoframeshift deletionNM_015202c.4309delAp.N1437fs--Wu2018 G
KIAA0556     A11chr16:
27580020-27580020
GAintronicDe novo--Wu2018 G
KIAA0556     AU3900301chr16:
27632686-27632686
GAintronicDe novo--Yuen2017 G
KIAA0556     AU3636301chr16:
27672430-27672430
GAintronicDe novo--Yuen2017 G
KIAA0556     2-1561-003chr16:
27632425-27632425
CTintronicDe 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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