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Results for "SPAG16"

Variant Events: 119

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
SPAG16     5-0119-003chr2:
214270546-214270546
GAintronicDe novo--Trost2022 G
SPAG16     AU2463301chr2:
214271553-214271553
CTintronicDe novo--Trost2022 G
SPAG16     SP0119829chr2:
214204874-214204874
AATintronicDe novo-0.0037Trost2022 G
SPAG16     3-0221-000chr2:
214227534-214227534
GTintronicDe novo--Trost2022 G
SPAG16     2-1093-009chr2:
214171103-214171107
CTCTCGTTTAintronicDe novo--Trost2022 G
SPAG16     mAGRE2528chr2:
214215366-214215366
GGCAGGTAAAGATATAGTexonicMaternalstopgainNM_024532c.759_760insCAGGTAAAGATATAGTp.G253_Q254delinsGQVKIX-2.0E-4Cirnigliaro2023 G
SPAG16     mAGRE4307chr2:
214149344-214149344
GCsplicingMaternalsplicing21.23.424E-5Cirnigliaro2023 G
SPAG16     A18chr2:
214501933-214501933
ATintronicDe novo--Wu2018 G
SPAG16     REACH000762chr2:
214308101-214308101
TCintronicDe novo--Trost2022 G
SPAG16     2-1528-003chr2:
214313370-214313370
GCintronicDe novo--Trost2022 G
SPAG16     REACH000258chr2:
214292299-214292299
CTintronicDe novo--Trost2022 G
SPAG16     REACH000145chr2:
214306120-214306120
TAintronicDe novo--Trost2022 G
SPAG16     AU2221301 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
SPAG16     1-0181-004chr2:
214261960-214261960
TCintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     3-0466-000Achr2:
214279108-214279109
ATAintronicDe novo--Trost2022 G
SPAG16     AU1955302chr2:
214440230-214440230
TCintronicDe novo--Yuen2017 G
SPAG16     AU2221301chr2:
214274769-214274769
CTintronicDe novo--Trost2022 G
SPAG16     AU2221301chr2:
214274772-214274772
GTintronicDe novo--Trost2022 G
SPAG16     1-1050-003chr2:
214413635-214413635
AGintronicDe novo--Trost2022 G
SPAG16     MSSNG00445-003chr2:
214415562-214415565
TATGTintronicDe novo--Trost2022 G
SPAG16     AU2463301chr2:
214389805-214389805
GAintronicDe novo--Trost2022 G
SPAG16     MSSNG00412-003chr2:
214411853-214411853
GAintronicDe novo--Trost2022 G
SPAG16     MSSNG00034-003chr2:
214357802-214357802
CTintronicDe novo--Trost2022 G
SPAG16     1-1149-003chr2:
214375051-214375051
GTintronicDe novo--Trost2022 G
SPAG16     MT_48.3chr2:
214323253-214323253
GAintronicDe novo--Trost2022 G
SPAG16     5-0147-003chr2:
214894386-214894386
GAintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     REACH000345chr2:
214356834-214356834
CAintronicDe novo--Trost2022 G
SPAG16     3-0309-000chr2:
214549077-214549077
GAintronicDe novo--Trost2022 G
SPAG16     1-0090-003chr2:
214570906-214570906
GAintronicDe novo--Trost2022 G
SPAG16     MSSNG00014-004chr2:
214519334-214519334
GAintronicDe novo--Trost2022 G
SPAG16     V5T5W_01chr2:
214544017-214544017
ACintronicDe novo--Trost2022 G
SPAG16     2-1196-003chr2:
214468656-214468656
TGintronicDe novo--Trost2022 G
SPAG16     14-600chr2:
214514189-214514189
TAintronicDe novo--Trost2022 G
SPAG16     MSSNG00252-003chr2:
214449620-214449620
GAintronicDe novo--Trost2022 G
SPAG16     AU2299301chr2:
214454872-214454872
GAintronicDe novo--Trost2022 G
SPAG16     AU1223301chr2:
214828121-214828121
GTintronicDe novo--Yuen2017 G
SPAG16     3-0393-000chr2:
214662869-214662869
AGintronicDe novo--Trost2022 G
SPAG16     AU2718301chr2:
214700602-214700602
GAintronicDe novo--Trost2022 G
SPAG16     1-0556-003chr2:
214149816-214149816
CTintronicDe novo--Yuen2017 G
SPAG16     MT_35.3chr2:
214632019-214632019
CTintronicDe novo--Trost2022 G
SPAG16     REACH000327chr2:
214652407-214652407
TGintronicDe novo--Trost2022 G
SPAG16     1-0956-003chr2:
214601506-214601506
GAintronicDe novo--Trost2022 G
SPAG16     1-0763-003chr2:
214702950-214702950
CCAGTGGintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     TRE_677chr2:
214204911-214204911
AGexonicDe novosynonymous SNVNM_024532c.A561Gp.K187K--Fu2022 E
SPAG16     7-0354-004chr2:
214605056-214605056
GAintronicDe novo--Trost2022 G
SPAG16     1-0524-003chr2:
214695293-214695293
CGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SPAG16     3-0058-000chr2:
214594356-214594356
GAintronicDe novo--Trost2022 G
SPAG16     1-0840-003chr2:
214594394-214594394
GAintronicDe novo--Trost2022 G
SPAG16     3-0777-000chr2:
214780108-214780108
GTintronicDe novo--Trost2022 G
SPAG16     2-1352-003chr2:
214511063-214511063
CTintronicDe novo--Yuen2016 G
Yuen2017 G
SPAG16     1-1000-003Achr2:
214792353-214792353
TCintronicDe novo--Trost2022 G
SPAG16     2-1549-003chr2:
214867250-214867265
AAGAGAGAGAGAGAGAAAGAGAGAGAGAGAintronicDe novo--Yuen2017 G
SPAG16     5-1004-003Achr2:
214764407-214764407
TGintronicDe novo--Trost2022 G
SPAG16     AU1725306chr2:
214778416-214778416
CAintronicDe novo--Trost2022 G
SPAG16     1-0339-003chr2:
214751573-214751574
TATintronicDe novo--Trost2022 G
SPAG16     MSSNG00388-003chr2:
214760462-214760462
GTintronicDe novo--Trost2022 G
SPAG16     MSSNG00349-004chr2:
214723974-214723974
CTintronicDe novo--Trost2022 G
SPAG16     7-0252-003chr2:
214750301-214750301
TAintronicDe novo--Trost2022 G
SPAG16     2-1796-003chr2:
214996766-214996766
AGintronicDe novo--Trost2022 G
SPAG16     3-0469-000chr2:
214210689-214210689
CTintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     7-0457-004chr2:
215026177-215026177
CTintronicDe novo--Trost2022 G
SPAG16     2-0139-004chr2:
214970726-214970726
TCintronicDe novo--Trost2022 G
SPAG16     REACH000689chr2:
214972855-214972855
CGintronicDe novo--Trost2022 G
SPAG16     5-5202-003chr2:
214918733-214918733
ATintronicDe novo--Trost2022 G
SPAG16     MSSNG00012-004Achr2:
214951151-214951151
GAintronicDe novo--Trost2022 G
SPAG16     MSSNG00066-003chr2:
214795249-214795249
CTintronicDe novo--Trost2022 G
SPAG16     AU2463301chr2:
214890417-214890417
CTintronicDe novo--Trost2022 G
SPAG16     3-0322-000chr2:
215254269-215254269
CGintronicDe novo--Trost2022 G
SPAG16     AU024608chr2:
214343456-214343456
GCintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     AU4093304chr2:
214499768-214499768
TCintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     4-0092-003chr2:
215158292-215158292
CAintronicDe novo--Trost2022 G
SPAG16     AU2463301chr2:
215228772-215228772
GAintronicDe novo--Trost2022 G
SPAG16     MSSNG00424-004chr2:
215068806-215068806
AGintronicDe novo--Trost2022 G
SPAG16     4-0025-003chr2:
215140501-215140501
GTintronicDe novo--Trost2022 G
SPAG16     7-0397-003chr2:
215040627-215040627
GAintronicDe novo--Trost2022 G
SPAG16     3-0467-000chr2:
215055237-215055237
AGintronicDe novo--Trost2022 G
SPAG16     PN400326chr2:
214878694-214878698
TTGTATexonicUnknownframeshift deletionNM_024532c.1421_1424delp.L474fs-0.0018Leblond2019 E
SPAG16     1-0305-004chr2:
214202386-214202388
CAACintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     2-1086-004chr2:
214852180-214852180
AGintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     2-1508-003chr2:
214380574-214380574
GTintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     1-1000-003chr2:
214792353-214792353
TCintronicDe novo--Yuen2017 G
SPAG16     7-0106-003chr2:
214160881-214160881
ATintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     2-1291-003chr2:
215118519-215118519
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SPAG16     AU3764302chr2:
214262466-214262466
CAintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     AU3857301chr2:
215075532-215075532
AGintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     13874.p1chr2:
215010331-215010331
AGintronicDe novo--Turner2016 G
SPAG16     2-1105-003chr2:
214276684-214276684
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SPAG16     AU047904chr2:
214396588-214396588
CTintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     1-0493-003chr2:
214357017-214357017
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SPAG16     1-0068-003chr2:
215111977-215111977
AGintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     AU3702306chr2:
215103705-215103705
TCintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     AU2525302chr2:
214265139-214265141
AGGAGintronicDe novo--Yuen2017 G
SPAG16     AU071804chr2:
214537581-214537584
TTGTTTintronicDe novo--Yuen2017 G
SPAG16     AU1848302chr2:
214216391-214216391
CTintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     AU047703chr2:
214503205-214503205
ATintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     AU047703chr2:
214506130-214506130
CTintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     AU074503chr2:
215158805-215158805
GAintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     5-0088-003chr2:
214713206-214713206
TCintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     1-0656-003chr2:
214353695-214353695
AGintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     2-0006-004chr2:
214429341-214429341
TCintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     2-0012-003chr2:
214201694-214201694
AGintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     AU3190305chr2:
214753151-214753151
GAintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     2-1254-003chr2:
214197899-214197899
AGintronicDe novo--Yuen2016 G
Yuen2017 G
SPAG16     5-0015-003chr2:
215045448-215045448
AGintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     AU4394302chr2:
214302093-214302093
ATintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     AU045010chr2:
214481588-214481588
AGintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     AU4054301chr2:
214715423-214715423
TCintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     AU3811301chr2:
214487078-214487078
CAintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     2-1178-003chr2:
214190551-214190551
CAintronicDe novo--Yuen2016 G
Yuen2017 G
SPAG16     AU1933302chr2:
215037762-215037762
TGintronicDe novo--Yuen2017 G
SPAG16     AU4234302chr2:
215208387-215208387
GAintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     1-0339-004chr2:
215174873-215174873
GAintronicDe novo--Yuen2017 G
SPAG16     2-1391-004chr2:
214338600-214338600
GAintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     A25chr2:
214637737-214637737
AGintronicDe novo--Wu2018 G
SPAG16     AU3702307chr2:
214543362-214543362
CTintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     1-0300-004chr2:
214721827-214721827
GAintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     2-0081-003chr2:
214791679-214791679
ACintronicDe novo--Trost2022 G
Yuen2017 G
SPAG16     2-1428-003chr2:
214358538-214358538
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SPAG16     1-0150-004chr2:
214812042-214812042
TAintronicDe novo--Trost2022 G
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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