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Results for "IGSF10"

Variant Events: 23

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
IGSF10     SSC05370chr3:
151164717-151164717
CTexonicDe novononsynonymous SNVNM_178822c.G3052Ap.G1018R12.787.416E-5Fu2022 E
Trost2022 G
IGSF10     SP0060498chr3:
151166894-151166894
CTexonicDe novononsynonymous SNVNM_178822c.G875Ap.S292N1.1450.001Trost2022 G
IGSF10     2-1238-003chr3:
151174301-151174301
CAintronicDe novo--Trost2022 G
IGSF10     SSC06985chr3:
151164292-151164292
GAexonicDe novosynonymous SNVNM_178822c.C3477Tp.N1159N-5.0E-4Trost2022 G
IGSF10     mAGRE2765chr3:
151171535-151171535
GAexonicPaternalstopgainNM_178822c.C352Tp.R118X32.01.0E-4Cirnigliaro2023 G
IGSF10     iHART2763chr3:
151171535-151171535
GAexonicPaternalstopgainNM_178822c.C352Tp.R118X32.01.0E-4Ruzzo2019 G
IGSF10     iHART2765chr3:
151171535-151171535
GAexonicPaternalstopgainNM_178822c.C352Tp.R118X32.01.0E-4Ruzzo2019 G
IGSF10     iHART2764chr3:
151171535-151171535
GAexonicPaternalstopgainNM_178822c.C352Tp.R118X32.01.0E-4Ruzzo2019 G
IGSF10     Cukier2014:37994chr3:
151154509-151154509
CTexonicUnknownnonsynonymous SNVNM_001178145
NM_001178146
NM_178822
c.G1921A
c.G1777A
c.G7840A
p.D641N
p.D593N
p.D2614N
26.00.0081Cukier2014 E
IGSF10     1-0104-003chr3:
151189032-151189034
CTGCintergenicDe novo--Yuen2017 G
IGSF10     13187.p1chr3:
151164292-151164292
GAexonicDe novosynonymous SNVNM_178822c.C3477Tp.N1159N-5.0E-4Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
IGSF10     EGAN00001101243chr3:
151165455-151165455
GAexonicDe novostopgainNM_178822c.C2314Tp.R772X36.02.0E-4Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
IGSF10     12679.p1chr3:
151164717-151164717
CTexonicDe novononsynonymous SNVNM_178822c.G3052Ap.G1018R12.787.416E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
IGSF10     2-1336-004chr3:
151227904-151227904
TTAintergenicDe novo--Yuen2017 G
IGSF10     SP0136391chr3:
151165838-151165838
CTexonicDe novononsynonymous SNVNM_178822c.G1931Ap.R644H6.9024.945E-5Fu2022 E
Trost2022 G
Zhou2022 GE
IGSF10     mAGRE2764chr3:
151171535-151171535
GAexonicPaternalstopgainNM_178822c.C352Tp.R118X32.01.0E-4Cirnigliaro2023 G
IGSF10     mAGRE2763chr3:
151171535-151171535
GAexonicPaternalstopgainNM_178822c.C352Tp.R118X32.01.0E-4Cirnigliaro2023 G
IGSF10     mAGRE1773chr3:
151164437-151164437
ACexonicMaternalstopgainNM_178822c.T3332Gp.L1111X37.0-Cirnigliaro2023 G
IGSF10     AU3779304chr3:
151160926-151160926
GAexonicPaternalstopgainNM_178822c.C5809Tp.R1937X43.05.766E-5Cirnigliaro2023 G
IGSF10     1-0255-003chr3:
151221372-151221372
GCintergenicDe novo--Yuen2017 G
IGSF10     AU3779302chr3:
151160926-151160926
GAexonicPaternalstopgainNM_178822c.C5809Tp.R1937X43.05.766E-5Cirnigliaro2023 G
IGSF10     AU3779301chr3:
151160926-151160926
GAexonicPaternalstopgainNM_178822c.C5809Tp.R1937X43.05.766E-5Cirnigliaro2023 G
IGSF10     mAGRE4427chr3:
151156352-151156352
TTCexonicPaternalframeshift insertionNM_001178145
NM_178822
c.77dupG
c.5996dupG
p.G26fs
p.G1999fs
-2.0E-4Cirnigliaro2023 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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