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Results for "SPEN"

Variant Events: 40

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
SPEN     SanDiego_T3Z4Uchr1:
16255694-16255694
CTexonicUnknownnonsynonymous SNVNM_015001c.C2959Tp.R987C15.831.659E-5Wang2020 T
SPEN     ACGC_HEN0044.p1chr1:
16255347-16255347
GAexonicUnknownnonsynonymous SNVNM_015001c.G2612Ap.R871H17.141.649E-5Wang2020 T
SPEN     Leuven_284010chr1:
16259693-16259694
GAGexonicDe novoframeshift deletionNM_015001c.6959delAp.E2320fs--Wang2020 T
SPEN     ACGC_M12425chr1:
16259730-16259730
GAexonicUnknownnonsynonymous SNVNM_015001c.G6995Ap.R2332H14.72.483E-5Wang2020 T
SPEN     12120.p1chr1:
16257386-16257386
GAexonicUnknown, De novononsynonymous SNVNM_015001c.G4651Ap.E1551K19.83-Ji2016 E
Krumm2015 E
Wang2020 T
SPEN     1-0467-003chr1:
16185025-16185025
AGintronicDe novo--Yuen2017 G
SPEN     AGRE_03C17014chr1:
16258268-16258268
GAexonicUnknownnonsynonymous SNVNM_015001c.G5533Ap.E1845K21.98.239E-6Wang2020 T
SPEN     DEASD_4030_001chr1:
16259042-16259042
AAGexonicDe novoframeshift insertionNM_015001c.6308dupGp.R2103fs--Fu2022 E
SPEN     AGRE_03C16810chr1:
16202818-16202818
CTexonicUnknownnonsynonymous SNVNM_015001c.C526Tp.R176W17.078.241E-6Wang2020 T
SPEN     APP_108130-100chr1:
16247429-16247429
CAexonicUnknownnonsynonymous SNVNM_015001c.C1700Ap.A567E24.71.667E-5Wang2020 T
SPEN     AGRE_03C17015chr1:
16258268-16258268
GAexonicUnknownnonsynonymous SNVNM_015001c.G5533Ap.E1845K21.98.239E-6Wang2020 T
SPEN     Lim2017:68663chr1:
16261227-16261227
GCexonicDe novononsynonymous SNVNM_015001c.G8492Cp.S2831T14.28-Lim2017 E
SPEN     ACGC_HEN0229.p1chr1:
16242758-16242758
GAexonicPaternalnonsynonymous SNVNM_015001c.G1379Ap.R460H19.49-Wang2020 T
SPEN     ACGC_GX0482.p1chr1:
16235857-16235857
GTexonicPaternalnonsynonymous SNVNM_015001c.G923Tp.R308L15.83-Wang2020 T
SPEN     AU226Achr1:
16235920-16235920
ACexonicUnknown, De novononsynonymous SNVNM_015001c.A986Cp.D329A17.83-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
SPEN     AGRE_04C23871chr1:
16247378-16247378
GAexonicUnknownnonsynonymous SNVNM_015001c.G1649Ap.R550H34.04.186E-5Wang2020 T
SPEN     AGRE_04C23859chr1:
16247378-16247378
GAexonicUnknownnonsynonymous SNVNM_015001c.G1649Ap.R550H34.04.186E-5Wang2020 T
SPEN     SP0143782chr1:
16254872-16254872
CTexonicDe novononsynonymous SNVNM_015001c.C2137Tp.R713W15.025.781E-5Fu2022 E
SPEN     AGRE_04C35443chr1:
16247378-16247378
GAexonicUnknownnonsynonymous SNVNM_015001c.G1649Ap.R550H34.04.186E-5Wang2020 T
SPEN     ACGC_SD0326.p1chr1:
16265790-16265790
GAsplicingPaternalsplicing10.63-Wang2020 T
SPEN     ACGC_HEN506.p1chr1:
16255164-16255164
GAexonicPaternalnonsynonymous SNVNM_015001c.G2429Ap.R810Q20.61.0E-4Wang2020 T
SPEN     2-1166-003chr1:
16258127-16258127
CTexonicDe novostopgainNM_015001c.C5392Tp.Q1798X41.0-Wang2020 T
Yuen2016 G
Yuen2017 G
SPEN     ACGC_GD0139.p1chr1:
16202752-16202752
CTexonicMaternalnonsynonymous SNVNM_015001c.C460Tp.R154W19.671.649E-5Wang2020 T
SPEN     Husson2020:168chr1:
16259967-16259967
CAexonicDe novostopgainNM_015001c.C7232Ap.S2411X44.0-Husson2020 E
SPEN     Leuven2_84887124chr1:
16257172-16257176
TAAAGTexonicUnknownframeshift deletionNM_015001c.4438_4441delp.K1480fs--Wang2020 T
SPEN     11160_p1chr1:
16255762-16255762
GGAexonicDe novoframeshift insertionNM_015001c.3027_3028insAp.M1009fs--Fu2022 E
SPEN     ACGC_GX0373.p1chr1:
16263932-16263932
CTexonicUnknownnonsynonymous SNVNM_015001c.C10301Tp.P3434L17.34-Wang2020 T
SPEN     68663chr1:
16261227-16261227
GCexonicDe novononsynonymous SNVNM_015001c.G8492Cp.S2831T14.28-Fu2022 E
SPEN     ACGC_SX0058.p1chr1:
16247432-16247432
CTexonicUnknownnonsynonymous SNVNM_015001c.C1703Tp.A568V27.2-Wang2020 T
SPEN     08C74427chr1:
16199450-16199450
CTexonicDe novononsynonymous SNVNM_015001c.C223Tp.R75C14.87-Fu2022 E
SPEN     JASD_Fam0233chr1:
16262656-16262656
GCexonicDe novosynonymous SNVNM_015001c.G9921Cp.R3307R--Takata2018 E
SPEN     TASC_211-5219-3chr1:
16258127-16258127
CTexonicUnknownstopgainNM_015001c.C5392Tp.Q1798X41.0-Wang2020 T
SPEN     SF0143782.p1chr1:
16254872-16254872
CTexonicnonsynonymous SNVNM_015001c.C2137Tp.R713W15.025.781E-5Wang2020 T
SPEN     ACGC_SD0024.p1chr1:
16257536-16257536
GAexonicUnknownnonsynonymous SNVNM_015001c.G4801Ap.D1601N16.63-Wang2020 T
SPEN     AGRE_03C16809chr1:
16202818-16202818
CTexonicUnknownnonsynonymous SNVNM_015001c.C526Tp.R176W17.078.241E-6Wang2020 T
SPEN     2-1376-003chr1:
16191619-16191633
TTACCGCAACCTCCGTintronicDe novo--Yuen2016 G
Yuen2017 G
SPEN     ASC_18D977chr1:
16260298-16260298
CAexonicDe novononsynonymous SNVNM_015001c.C7563Ap.D2521E13.96-Fu2022 E
SPEN     11160.p1 Complex Event; expand row to view variants  Unknown, De novononsynonymous SNV, frameshift insertionNM_015001
NM_015001
NM_015001
c.G3028A
c.3027_3028insA
c.3029dupA
p.E1010K
p.M1009fs
p.E1010fs
11.3-Iossifov2014 E
Iossifov2014 E
Ji2016 E
Ji2016 E
Kosmicki2017 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
SPEN     08C73928chr1:
16263724-16263724
CTexonicDe novononsynonymous SNVNM_015001c.C10093Tp.P3365S2.075-Fu2022 E
Satterstrom2020 E
SPEN     12072.p1chr1:
16261227-16261227
GCexonicUnknown, De novononsynonymous SNVNM_015001c.G8492Cp.S2831T14.28-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 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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