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Results for "SPAG9"

Variant Events: 9

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
SPAG9     1-0044-003chr17:
49154993-49154993
TAintronicDe novo--Yuen2017 G
SPAG9     7-0171-003chr17:
49010825-49010825
CTintergenicDe novo--Yuen2017 G
SPAG9     13837.p1chr17:
49057167-49057167
CTexonicDe novononsynonymous SNVNM_001251971
NM_003971
NM_001130527
NM_001130528
c.G2878A
c.G3307A
c.G3319A
c.G3349A
p.A960T
p.A1103T
p.A1107T
p.A1117T
34.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
SPAG9     2-1381-003chr17:
49085685-49085695
AGAAATGAAATAGAAATintronicDe novo--Yuen2017 G
SPAG9     AU4168306chr17:
48964347-48964347
CTintergenicDe novo--Yuen2017 G
SPAG9     1-0125-003chr17:
49122935-49122935
CGintronicDe novo--Yuen2017 G
SPAG9     1-0495-003chr17:
48962809-48962809
GAintergenicDe novo--Yuen2017 G
SPAG9     14165.p1chr17:
49072429-49072434
GATCTAGexonicDe novoframeshift deletionNM_001251971
NM_003971
NM_001130527
NM_001130528
c.1739_1743del
c.2168_2172del
c.2180_2184del
c.2210_2214del
p.L580fs
p.L723fs
p.L727fs
p.L737fs
--Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
SPAG9     SSC08741chr17:
49057167-49057167
CTexonicDe novononsynonymous SNVNM_001251971
NM_003971
NM_001130527
NM_001130528
c.G2878A
c.G3307A
c.G3319A
c.G3349A
p.A960T
p.A1103T
p.A1107T
p.A1117T
34.0-Lim2017 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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