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Results for "KAZN"

Variant Events: 35

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
KAZN     1-0104-003chr1:
15177358-15177358
CAintronicDe novo--Yuen2017 G
KAZN     2-1245-003chr1:
14953016-14953016
GAintronicDe novo--Yuen2017 G
KAZN     1-0219-003chr1:
15215052-15215052
GAintronicDe novo--Yuen2017 G
KAZN     DEASD_0415_001chr1:
15386640-15386640
TGintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
KAZN     1-0494-003Achr1:
15145490-15145490
GAintronicDe novo--Yuen2017 G
KAZN     AU3861302chr1:
14956158-14956158
GCintronicDe novo--Yuen2017 G
KAZN     2-1152-003chr1:
14945824-14945824
GCintronicDe novo--Yuen2016 G
Yuen2017 G
KAZN     AU3368302chr1:
15030780-15030780
CTintronicDe novo--Yuen2017 G
KAZN     11063.p1chr1:
15392255-15392256
GCGexonicDe novoframeshift deletionNM_001017999
NM_001018000
NM_001018001
NM_015209
c.947delC
c.1211delC
c.947delC
c.1229delC
p.A316fs
p.A404fs
p.A316fs
p.A410fs
--Wilfert2021 G
KAZN     AU4168306chr1:
15124481-15124481
ACintronicDe novo--Yuen2017 G
KAZN     A5chr1:
14947875-14947875
GAintronicDe novo--Wu2018 G
KAZN     12680.p1chr1:
14938384-14938384
GAintronicDe novo--Turner2016 G
KAZN     AU4233301chr1:
15004927-15004927
TCintronicDe novo--Yuen2017 G
KAZN     1-0595-005chr1:
15082578-15082578
GAintronicDe novo--Yuen2017 G
KAZN     NDAR_INVAR462JT4_wes1chr1:
15430600-15430600
GAexonicDe novononsynonymous SNVNM_201628c.G1963Ap.A655T35.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
KAZN     1-0763-003chr1:
15004678-15004678
GCintronicDe novo--Yuen2017 G
KAZN     1-0067-004chr1:
15272840-15272840
TTTTTTTTTTTTTAATTCTCTCintronicDe novo--Yuen2017 G
KAZN     AU2711303chr1:
15369721-15369721
GAintronicDe novo--Yuen2017 G
KAZN     7-0119-003chr1:
15209291-15209291
CTintronicDe novo--Yuen2017 G
KAZN     1-0494-003chr1:
15145490-15145490
GAintronicDe novo--Yuen2017 G
KAZN     3-0447-000chr1:
15238777-15238777
GAintronicDe novo--Yuen2016 G
Yuen2017 G
KAZN     2-1521-003chr1:
15114853-15114853
GAintronicDe novo--Yuen2017 G
KAZN     3-0437-000chr1:
15155312-15155312
GAintronicDe novo--Yuen2016 G
KAZN     AU1404301chr1:
15038992-15038992
CTintronicDe novo--Yuen2017 G
KAZN     2-1696-003chr1:
15207335-15207335
GAintronicDe novo--Yuen2017 G
KAZN     1-0279-004chr1:
15194449-15194449
AAGCATATGCGGintronicDe novo--Yuen2017 G
KAZN     1-0278-003chr1:
15371699-15371699
GAintronicDe novo--Yuen2016 G
KAZN     AU1933301chr1:
14930963-14930963
GAintronicDe novo--Yuen2017 G
KAZN     3-0439-000chr1:
15228623-15228623
CTintronicDe novo--Yuen2016 G
KAZN     AU047704chr1:
15230501-15230501
CTintronicDe novo--Yuen2017 G
KAZN     2-1369-003chr1:
15135393-15135393
CGintronicDe novo--Yuen2016 G
KAZN     2-0145-004chr1:
15281094-15281094
CTintronicDe novo--Yuen2017 G
KAZN     13677.p1chr1:
15382658-15382658
GAexonicDe novosynonymous SNVNM_001017999
NM_001018000
NM_001018001
NM_015209
NM_201628
c.G516A
c.G780A
c.G516A
c.G798A
c.G798A
p.T172T
p.T260T
p.T172T
p.T266T
p.T266T
--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
KAZN     A7chr1:
15398612-15398612
CTintronicDe novo--Wu2018 G
KAZN     1-0079-003chr1:
15100710-15100710
GGAACintronicDe 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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