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Results for "FSIP2"

Variant Events: 43

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
FSIP2     653-04-102262chr2:
186696658-186696658
CTintronicDe novo--Satterstrom2020 E
Trost2022 G
FSIP2     iHART1090chr2:
186670014-186670015
TATexonicPaternalframeshift deletionNM_173651c.16249delAp.I5417fs-2.0E-4Ruzzo2019 G
FSIP2     SSC11954chr2:
186654444-186654444
AGexonicDe novononsynonymous SNVNM_173651c.A2848Gp.I950V--Trost2022 G
FSIP2     iHART2769chr2:
186665045-186665050
ATAAGTAexonicPaternalframeshift deletionNM_173651c.11280_11284delp.N3760fs-7.065E-5Ruzzo2019 G
FSIP2     MSSNG00427-003chr2:
186635081-186635081
TAintronicDe novo--Trost2022 G
FSIP2     SJD_65.3chr2:
186642727-186642727
CAintronicDe novo--Trost2022 G
FSIP2     MSSNG00452-003chr2:
186606878-186606878
GAintronicDe novo--Trost2022 G
FSIP2     SSC05233chr2:
186625767-186625768
GAGexonicDe novoframeshift deletionNM_173651c.1399delAp.K467fs--Trost2022 G
FSIP2     iHART3090chr2:
186671089-186671089
GTexonicPaternalstopgainNM_173651c.G17323Tp.E5775X55.0-Ruzzo2019 G
FSIP2     1-0826-004chr2:
186885699-186885699
AGintergenicDe novo--Yuen2017 G
FSIP2     2-1137-003chr2:
186709764-186709764
CTintergenicDe novo--Yuen2017 G
FSIP2     TRE_648chr2:
186666303-186666303
CTexonicDe novosynonymous SNVNM_173651c.C12537Tp.Y4179Y--Fu2022 E
FSIP2     12598.p1chr2:
186625767-186625768
GAGexonicDe novoframeshift deletionNM_173651c.1399delAp.K467fs--Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
FSIP2     161776chr2:
186660085-186660085
ACexonicDe novononsynonymous SNVNM_173651c.A8489Cp.D2830A8.127-Fu2022 E
FSIP2     AU061104chr2:
186876600-186876600
CTintergenicDe novo--Yuen2017 G
FSIP2     Cukier2014:7606chr2:
186654867-186654867
GCexonicUnknownnonsynonymous SNVNM_173651c.G3271Cp.D1091H12.610.1802Cukier2014 E
FSIP2     2-0309-004chr2:
186844345-186844345
CTintergenicDe novo--Yuen2017 G
FSIP2     TRE_152chr2:
186611454-186611454
CTexonicDe novononsynonymous SNVNM_173651c.C943Tp.R315C6.005-Fu2022 E
FSIP2     SP0068063chr2:
186671787-186671787
CTexonicDe novosynonymous SNVNM_173651c.C18021Tp.H6007H--Fu2022 E
Trost2022 G
Zhou2022 GE
FSIP2     mAGRE2024chr2:
186668962-186668963
GTGexonicMaternalframeshift deletionNM_173651c.15197delTp.V5066fs-7.422E-5Cirnigliaro2023 G
FSIP2     SP0112847chr2:
186678714-186678714
CTexonicDe novononsynonymous SNVNM_173651c.C20537Tp.P6846L11.53-Fu2022 E
Zhou2022 GE
FSIP2     mAGRE5063chr2:
186665045-186665050
ATAAGTAexonicMaternalframeshift deletionNM_173651c.11280_11284delp.N3760fs-7.065E-5Cirnigliaro2023 G
FSIP2     mAGRE2769chr2:
186665045-186665050
ATAAGTAexonicPaternalframeshift deletionNM_173651c.11280_11284delp.N3760fs-7.065E-5Cirnigliaro2023 G
FSIP2     14479.p1chr2:
186654444-186654444
AGexonicDe novononsynonymous SNVNM_173651c.A2848Gp.I950V--Satterstrom2020 E
Zhou2022 GE
FSIP2     SP0121033chr2:
186697801-186697801
TCintronicDe novo-1.67E-5Fu2022 E
Trost2022 G
FSIP2     mAGRE4464chr2:
186603645-186603645
CAexonicMaternalstopgainNM_173651c.C291Ap.C97X31.0-Cirnigliaro2023 G
FSIP2     SP0004219chr2:
186662107-186662107
ACexonicDe novononsynonymous SNVNM_173651c.A10511Cp.K3504T2.772-Fu2022 E
Zhou2022 GE
FSIP2     MCD-013-3chr2:
186656084-186656084
ATexonicMaternalnonsynonymous SNVNM_173651c.A4488Tp.K1496N8.513-Tuncay2023 G
FSIP2     mAGRE5032chr2:
186678425-186678425
CTexonicMaternalstopgainNM_173651c.C20248Tp.R6750X57.0-Cirnigliaro2023 G
FSIP2     mAGRE3090chr2:
186671089-186671089
GTexonicPaternalstopgainNM_173651c.G17323Tp.E5775X55.0-Cirnigliaro2023 G
FSIP2     mAGRE1090chr2:
186670014-186670015
TATexonicPaternalframeshift deletionNM_173651c.16249delAp.I5417fs-2.0E-4Cirnigliaro2023 G
FSIP2     mAGRE2027chr2:
186668962-186668963
GTGexonicMaternalframeshift deletionNM_173651c.15197delTp.V5066fs-7.422E-5Cirnigliaro2023 G
FSIP2     2-0033-003chr2:
186868663-186868664
AGAintergenicDe novo--Yuen2017 G
FSIP2     2-0264-004chr2:
186762755-186762755
TCintergenicDe novo--Yuen2017 G
FSIP2     2-1577-003chr2:
186775378-186775378
TCintergenicDe novo--Yuen2017 G
FSIP2     2469_17auchr2:
186658661-186658661
AGexonicDe novosynonymous SNVNM_173651c.A7065Gp.T2355T--Fu2022 E
FSIP2     11366.p1chr2:
186661777-186661777
ATexonicnonsynonymous SNVNM_173651c.A10181Tp.Y3394F8.322-Zhou2022 GE
FSIP2     1-0262-003Achr2:
186603607-186603607
GGAexonicDe novoframeshift insertionNM_173651c.253_254insAp.G85fs--Trost2022 G
Zhou2022 GE
FSIP2     SP0052158chr2:
186673735-186673735
GGAexonicframeshift insertionNM_173651c.19970dupAp.E6657fs--Zhou2022 GE
FSIP2     5-1001-003chr2:
186668918-186668918
AGexonicnonsynonymous SNVNM_173651c.A15152Gp.Y5051C11.02-Zhou2022 GE
FSIP2     A26chr2:
186695166-186695166
GTintronicDe novo--Wu2018 G
FSIP2     AU3517301chr2:
186645621-186645621
AGintronicDe novo--Trost2022 G
Yuen2017 G
FSIP2     MCD-013-3chr2:
186655206-186655206
ACexonicPaternalnonsynonymous SNVNM_173651c.A3610Cp.K1204Q8.856-Tuncay2023 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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