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Results for "KATNAL1"

Variant Events: 12

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
KATNAL1     12493.p1chr13:
30875893-30875893
GAintronicDe novo--Turner2016 G
KATNAL1     1-0274-003chr13:
30807768-30807768
AGintronicDe novo--Yuen2017 G
KATNAL1     1-0144-004chr13:
30792657-30792657
CAintronicDe novo--Yuen2017 G
KATNAL1     1-0448-003chr13:
30815117-30815120
GATAGAexonicDe novoframeshift deletionNM_001014380
NM_032116
c.596_597del
c.596_597del
p.V199fs
p.V199fs
--Yuen2017 G
KATNAL1     5-0065-003chr13:
30862003-30862003
ACintronicDe novo--Yuen2017 G
KATNAL1     1-0274-004chr13:
30807768-30807768
AGintronicDe novo--Yuen2017 G
KATNAL1     2-0126-004chr13:
30890630-30890630
TCintergenicDe novo--Yuen2017 G
KATNAL1     3-0448-000chr13:
30901256-30901256
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
KATNAL1     05C49422chr13:
30805653-30805653
ACintronicDe novo--Satterstrom2020 E
KATNAL1     2-1152-003chr13:
30820830-30820830
ATintronicDe novo--Yuen2016 G
Yuen2017 G
KATNAL1     AU4154303chr13:
30779743-30779743
CTUTR3De novo--Yuen2017 G
KATNAL1     05HI3915Achr13:
30857896-30857896
ACexonicDe novononsynonymous SNVNM_001014380
NM_032116
c.T19G
c.T19G
p.C7G
p.C7G
16.26-Satterstrom2020 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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