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Results for "KIAA1549"

Variant Events: 13

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
KIAA1549     AU1987304chr7:
138560855-138560855
ACintronicDe novo--Yuen2017 G
KIAA1549     2-1507-003chr7:
138520143-138520143
TCUTR3De novo--Yuen2017 G
KIAA1549     2-1212-003chr7:
138634687-138634687
GAintronicDe novo--Yuen2017 G
KIAA1549     5-0025-003chr7:
138542813-138542813
GAintronicDe novo--Yuen2017 G
KIAA1549     13964.p1chr7:
138665891-138665894
GGGCGexonicDe novononframeshift deletionNM_001164665
NM_020910
c.122_124del
c.122_124del
p.41_42del
p.41_42del
--Satterstrom2020 E
KIAA1549     09C91113chr7:
138552798-138552798
GAexonicDe novononsynonymous SNVNM_001164665
NM_020910
c.C4852T
c.C4852T
p.R1618W
p.R1618W
17.22.545E-5Neale2012 E
Satterstrom2020 E
KIAA1549     2-0299-005chr7:
138610093-138610093
TAintronicDe novo--Yuen2017 G
KIAA1549     G01-GEA-206-HIchr7:
138579137-138579137
TCexonicDe novononsynonymous SNVNM_001164665
NM_020910
c.A3983G
c.A3983G
p.K1328R
p.K1328R
25.5-Satterstrom2020 E
KIAA1549     AU3263301chr7:
138704922-138704922
GAintergenicDe novo--Yuen2017 G
KIAA1549     2-1228-003chr7:
138563948-138563948
CTintronicDe novo--Yuen2016 G
Yuen2017 G
KIAA1549     1-0051-004chr7:
138691330-138691330
GAintergenicDe novo--Yuen2017 G
KIAA1549     1-0107-003chr7:
138536734-138536734
GTintronicDe novo--Yuen2016 G
Yuen2017 G
KIAA1549     AU2109302chr7:
138548655-138548655
TCintronicDe 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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