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Results for "HAUS6"

Variant Events: 19

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
HAUS6     REACH000233chr9:
19096591-19096591
GAintronicDe novo--Trost2022 G
HAUS6     1-0190-003chr9:
19087428-19087428
CTintronicDe novo--Trost2022 G
Yuen2017 G
HAUS6     1-0336-004chr9:
19066660-19066660
TCintronicDe novo--Trost2022 G
Yuen2017 G
HAUS6     4-0028-003chr9:
19092027-19092031
TAAAATintronicDe novo--Trost2022 G
HAUS6     SP0045382chr9:
19063003-19063003
CAintronicDe novo--Fu2022 E
Trost2022 G
Zhou2022 GE
HAUS6     REACH000233chr9:
19096588-19096588
GAintronicDe novo--Trost2022 G
HAUS6     1-0255-003chr9:
19103064-19103064
CTupstreamDe novo--Yuen2016 G
HAUS6     AU2458303 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
HAUS6     SP0024794chr9:
19080631-19080631
GAexonicDe novononsynonymous SNVNM_001270890
NM_017645
c.C910T
c.C910T
p.L304F
p.L304F
17.771.0E-4Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
HAUS6     2-1737-003chr9:
19106914-19106914
CGintergenicDe novo--Yuen2017 G
HAUS6     2-1688-003chr9:
19081143-19081144
TTAAintronicDe novo--Trost2022 G
HAUS6     5-5202-003chr9:
19084877-19084877
ACintronicDe novo--Trost2022 G
HAUS6     7-0457-004chr9:
19060261-19060261
CAintronicDe novo--Trost2022 G
HAUS6     Shi2013:2chr9:
19076692-19076692
ATexonicInheritednonsynonymous SNVNM_001270890
NM_017645
c.T1097A
c.T1202A
p.L366H
p.L401H
19.671.0E-4Shi2013 G
HAUS6     REACH000097chr9:
19060957-19060957
CGintronicDe novo--Trost2022 G
HAUS6     Shi2013:1chr9:
19076692-19076692
ATexonicInheritednonsynonymous SNVNM_001270890
NM_017645
c.T1097A
c.T1202A
p.L366H
p.L401H
19.671.0E-4Shi2013 G
HAUS6     1-0362-003chr9:
19059127-19059130
GGATGintronicDe novo--Trost2022 G
HAUS6     MSSNG00098-003chr9:
19059207-19059207
AGintronicDe novo--Trost2022 G
HAUS6     SP0043516chr9:
19056395-19056398
GTCTGexonicDe novononframeshift deletionNM_001270890
NM_017645
c.2706_2708del
c.2811_2813del
p.902_903del
p.937_938del
-1.651E-5Trost2022 G
Zhou2022 GE
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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