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Results for "SPEN"

Variant Events: 34

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     GD0139.p1chr1:
16202752-16202752
CTexonicMaternalnonsynonymous SNVNM_015001c.C460Tp.R154W19.671.649E-5Wang2020 T
Wang2020 T
SPEN     SD0024.p1chr1:
16257536-16257536
GAexonicUnknownnonsynonymous SNVNM_015001c.G4801Ap.D1601N16.63-Wang2020 T
Wang2020 T
SPEN     12120.p1chr1:
16257386-16257386
GAexonicDe novononsynonymous SNVNM_015001c.G4651Ap.E1551K19.83-Ji2016 E
Krumm2015 E
Wang2020 T
SPEN     1-0467-003chr1:
16185025-16185025
AGintronicDe novo--Yuen2017 G
SPEN     GX0373.p1chr1:
16263932-16263932
CTexonicUnknownnonsynonymous SNVNM_015001c.C10301Tp.P3434L17.34-Wang2020 T
Wang2020 T
SPEN     SX0058.p1chr1:
16247432-16247432
CTexonicUnknownnonsynonymous SNVNM_015001c.C1703Tp.A568V27.2-Wang2020 T
Wang2020 T
SPEN     03C16810chr1:
16202818-16202818
CTexonicUnknownnonsynonymous SNVNM_015001c.C526Tp.R176W17.078.241E-6Wang2020 T
Wang2020 T
Wang2020 T
SPEN     T3Z4Uchr1:
16255694-16255694
CTexonicUnknownnonsynonymous SNVNM_015001c.C2959Tp.R987C15.831.659E-5Wang2020 T
Wang2020 T
SPEN     HEN0044.p1chr1:
16255347-16255347
GAexonicUnknownnonsynonymous SNVNM_015001c.G2612Ap.R871H17.141.649E-5Wang2020 T
Wang2020 T
SPEN     04C35443chr1:
16247378-16247378
GAexonicUnknownnonsynonymous SNVNM_015001c.G1649Ap.R550H34.04.186E-5Wang2020 T
Wang2020 T
Wang2020 T
SPEN     M12425chr1:
16259730-16259730
GAexonicUnknownnonsynonymous SNVNM_015001c.G6995Ap.R2332H14.72.483E-5Wang2020 T
Wang2020 T
SPEN     04C23871chr1:
16247378-16247378
GAexonicUnknownnonsynonymous SNVNM_015001c.G1649Ap.R550H34.04.186E-5Wang2020 T
Wang2020 T
Wang2020 T
SPEN     03C16809chr1:
16202818-16202818
CTexonicUnknownnonsynonymous SNVNM_015001c.C526Tp.R176W17.078.241E-6Wang2020 T
Wang2020 T
SPEN     03C17015chr1:
16258268-16258268
GAexonicUnknownnonsynonymous SNVNM_015001c.G5533Ap.E1845K21.98.239E-6Wang2020 T
Wang2020 T
Wang2020 T
SPEN     Lim2017:68663chr1:
16261227-16261227
GCexonicDe novononsynonymous SNVNM_015001c.G8492Cp.S2831T14.28-Lim2017 E
SPEN     108130-100chr1:
16247429-16247429
CAexonicUnknownnonsynonymous SNVNM_015001c.C1700Ap.A567E24.71.667E-5Wang2020 T
Wang2020 T
SPEN     03C17014chr1:
16258268-16258268
GAexonicUnknownnonsynonymous SNVNM_015001c.G5533Ap.E1845K21.98.239E-6Wang2020 T
Wang2020 T
SPEN     AU226Achr1:
16235920-16235920
ACexonicDe novononsynonymous SNVNM_015001c.A986Cp.D329A17.83-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
SPEN     SF0143782.p1chr1:
16254872-16254872
CTexonicDe novononsynonymous SNVNM_015001c.C2137Tp.R713W15.025.781E-5Wang2020 T
SPEN     2-1166-003chr1:
16258127-16258127
CTexonicDe novostopgainNM_015001c.C5392Tp.Q1798X41.0-Wang2020 T
Yuen2016 G
Yuen2017 G
SPEN     HEN0229.p1chr1:
16242758-16242758
GAexonicPaternalnonsynonymous SNVNM_015001c.G1379Ap.R460H19.49-Wang2020 T
Wang2020 T
SPEN     GX0482.p1chr1:
16235857-16235857
GTexonicPaternalnonsynonymous SNVNM_015001c.G923Tp.R308L15.83-Wang2020 T
Wang2020 T
SPEN     SD0326.p1chr1:
16265790-16265790
GAsplicingPaternalsplicing10.63-Wang2020 T
Wang2020 T
SPEN     HEN506.p1chr1:
16255164-16255164
GAexonicPaternalnonsynonymous SNVNM_015001c.G2429Ap.R810Q20.61.0E-4Wang2020 T
Wang2020 T
SPEN     04C23859chr1:
16247378-16247378
GAexonicUnknownnonsynonymous SNVNM_015001c.G1649Ap.R550H34.04.186E-5Wang2020 T
Wang2020 T
SPEN     Husson2020:168chr1:
16259967-16259967
CAexonicDe novostopgainNM_015001c.C7232Ap.S2411X44.0-Husson2020 E
SPEN     284010chr1:
16259693-16259694
GAGexonicDe novoframeshift deletionNM_015001c.6959delAp.E2320fs--Wang2020 T
Wang2020 T
Wang2020 T
SPEN     84887124chr1:
16257172-16257176
TAAAGTexonicUnknownframeshift deletionNM_015001c.4438_4441delp.K1480fs--Wang2020 T
Wang2020 T
Wang2020 T
SPEN     JASD_Fam0233chr1:
16262656-16262656
GCexonicDe novosynonymous SNVNM_015001c.G9921Cp.R3307R--Takata2018 E
SPEN     211-5219-3chr1:
16258127-16258127
CTexonicUnknownstopgainNM_015001c.C5392Tp.Q1798X41.0-Wang2020 T
Wang2020 T
Wang2020 T
SPEN     2-1376-003chr1:
16191619-16191633
TTACCGCAACCTCCGTintronicDe novo--Yuen2016 G
Yuen2017 G
SPEN     11160.p1 Complex Event; expand row to view variants  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-Satterstrom2020 E
SPEN     12072.p1chr1:
16261227-16261227
GCexonicDe 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:

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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
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