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Results for "AMZ2"

Variant Events: 16

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
AMZ2     PN400323chr17:
66252959-66252964		TGGTGATexonicUnknownframeshift deletionNM_001033574
NM_016627
NM_001033569
NM_001033570
NM_001033571
NM_001033572
NM_001289054
NM_001289056		c.759_763del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del		p.L253fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs		-0.0046Leblond2019 E
AMZ2     PN400560chr17:
66252959-66252964		TGGTGATexonicUnknownframeshift deletionNM_001033574
NM_016627
NM_001033569
NM_001033570
NM_001033571
NM_001033572
NM_001289054
NM_001289056		c.759_763del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del		p.L253fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs		-0.0046Leblond2019 E
AMZ2     PN400272chr17:
66252959-66252964		TGGTGATexonicUnknownframeshift deletionNM_001033574
NM_016627
NM_001033569
NM_001033570
NM_001033571
NM_001033572
NM_001289054
NM_001289056		c.759_763del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del		p.L253fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs		-0.0046Leblond2019 E
AMZ2     PN400194chr17:
66252959-66252964		TGGTGATexonicUnknownframeshift deletionNM_001033574
NM_016627
NM_001033569
NM_001033570
NM_001033571
NM_001033572
NM_001289054
NM_001289056		c.759_763del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del		p.L253fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs		-0.0046Leblond2019 E
AMZ2     PN400116chr17:
66252959-66252964		TGGTGATexonicUnknownframeshift deletionNM_001033574
NM_016627
NM_001033569
NM_001033570
NM_001033571
NM_001033572
NM_001289054
NM_001289056		c.759_763del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del		p.L253fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs		-0.0046Leblond2019 E
AMZ2     PN400182chr17:
66252959-66252964		TGGTGATexonicUnknownframeshift deletionNM_001033574
NM_016627
NM_001033569
NM_001033570
NM_001033571
NM_001033572
NM_001289054
NM_001289056		c.759_763del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del		p.L253fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs		-0.0046Leblond2019 E
AMZ2     PN400416chr17:
66252959-66252964		TGGTGATexonicUnknownframeshift deletionNM_001033574
NM_016627
NM_001033569
NM_001033570
NM_001033571
NM_001033572
NM_001289054
NM_001289056		c.759_763del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del		p.L253fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs		-0.0046Leblond2019 E
AMZ2     12228.p1chr17:
66247017-66247018		GATTexonicDe novononframeshift substitutionNM_016627
NM_001033569
NM_001033570
NM_001033571
NM_001033572
NM_001289054
NM_001289056		c.366_367TT
c.366_367TT
c.366_367TT
c.366_367TT
c.366_367TT
c.366_367TT
c.366_367TT		N/A
N/A
N/A
N/A
N/A
N/A
N/A		--Ji2016 E
Krumm2015 E
AMZ2     AU2089302 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
AMZ2     MT_160chr17:
66251859-66251859		GAexonicPaternalnonsynonymous SNVNM_001033574
NM_016627
NM_001033569
NM_001033570
NM_001033571
NM_001033572
NM_001289054
NM_001289056		c.G595A
c.G769A
c.G769A
c.G769A
c.G769A
c.G769A
c.G769A
c.G769A		p.G199R
p.G257R
p.G257R
p.G257R
p.G257R
p.G257R
p.G257R
p.G257R		22.04.951E-5Toma2013 E
AMZ2     PN400292chr17:
66252959-66252964		TGGTGATexonicUnknownframeshift deletionNM_001033574
NM_016627
NM_001033569
NM_001033570
NM_001033571
NM_001033572
NM_001289054
NM_001289056		c.759_763del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del		p.L253fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs		-0.0046Leblond2019 E
AMZ2     PN400396chr17:
66252959-66252964		TGGTGATexonicUnknownframeshift deletionNM_001033574
NM_016627
NM_001033569
NM_001033570
NM_001033571
NM_001033572
NM_001289054
NM_001289056		c.759_763del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del		p.L253fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs		-0.0046Leblond2019 E
AMZ2     SP0056796chr17:
66252912-66252912		TCintronicDe novo--Fu2022 E
Trost2022 G
AMZ2     PN400128chr17:
66252959-66252964		TGGTGATexonicUnknownframeshift deletionNM_001033574
NM_016627
NM_001033569
NM_001033570
NM_001033571
NM_001033572
NM_001289054
NM_001289056		c.759_763del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del		p.L253fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs		-0.0046Leblond2019 E
AMZ2     PN400249chr17:
66252959-66252964		TGGTGATexonicUnknownframeshift deletionNM_001033574
NM_016627
NM_001033569
NM_001033570
NM_001033571
NM_001033572
NM_001289054
NM_001289056		c.759_763del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del		p.L253fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs		-0.0046Leblond2019 E
AMZ2     PN400431chr17:
66252959-66252964		TGGTGATexonicUnknownframeshift deletionNM_001033574
NM_016627
NM_001033569
NM_001033570
NM_001033571
NM_001033572
NM_001289054
NM_001289056		c.759_763del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del
c.933_937del		p.L253fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs
p.L311fs		-0.0046Leblond2019 E
Source Variant Information

, -

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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