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Results for "GIGYF1"

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
GIGYF1     1883-23662chr7:
100280017-100280018		TGTexonicframeshift deletionNM_022574c.2688delCp.P896fs--Callaghan2019 G
GIGYF1     SP0017274chr7:
100284305-100284305		GAexonicDe novostopgainNM_022574c.C661Tp.R221X47.0-Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
GIGYF1     74-0481chr7:
100284283-100284283		GCexonicInheritednonsynonymous SNVNM_022574c.C683Gp.S228C15.792.635E-5Patowary2019 E
GIGYF1     GX0213.p1chr7:
100284044-100284044		CTexonicMaternalnonsynonymous SNVNM_022574c.G707Ap.R236H30.03.533E-5Guo2018 T
GIGYF1     Husson2020:325chr7:
100279344-100279344		ACexonicstoplossNM_022574c.T3106Gp.X1036G16.48-Husson2020 E
GIGYF1     Wang2023:129chr7:
100285168-100285169		CACexonicDe novoframeshift deletionNM_022574c.332delTp.L111fs-3.539E-5Wang2023 E
GIGYF1     11860.p1chr7:
100279943-100279943		AGsplicingDe novosplicing10.85-Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE
GIGYF1     11232_p1chr7:
100283002-100283019		TCCCCATCCCCGTTTGTCTexonicDe novoframeshift deletionNM_022574c.1140_1156delp.G380fs--Fu2022 E
GIGYF1     37386chr7:
100282216-100282216		CCCATCTexonicDe novoframeshift insertionNM_022574c.1485_1486insAGATGp.A496fs--Fu2022 E
Trost2022 G
GIGYF1     14530.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_022574
NM_022574		c.1485_1486insAGATG
c.1484_1485insAGATG		p.A496fs
p.M495fs		--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
GIGYF1     14114.p1chr7:
100285168-100285169		CACexonicDe novoframeshift deletionNM_022574c.332delTp.L111fs-3.539E-5Wilfert2021 G
Zhou2022 GE
GIGYF1     200675722_1082034785chr7:
100280096-100280096		GCexonicDe novostopgainNM_022574c.C2610Gp.Y870X45.0-Fu2022 E
GIGYF1     11232.p1chr7:
100283002-100283019		TCCCCATCCCCGTTTGTCTexonicDe novoframeshift deletionNM_022574c.1140_1156delp.G380fs--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
GIGYF1     SSC03820chr7:
100279943-100279943		AGsplicingDe novosplicing10.85-Fu2022 E
Trost2022 G
GIGYF1     SP0148352chr7:
100285168-100285169		CACexonicDe novoframeshift deletionNM_022574c.332delTp.L111fs-3.539E-5Trost2022 G
GIGYF1     REACH000589chr7:
100285862-100285862		CTUTR5De novo-2.528E-5Trost2022 G
GIGYF1     200675722@1082034785chr7:
100280096-100280096		GCexonicDe novostopgainNM_022574c.C2610Gp.Y870X45.0-Satterstrom2020 E
Trost2022 G
Zhou2022 GE
GIGYF1     SP0047800chr7:
100280371-100280372		CACexonicDe novoframeshift deletionNM_022574c.2441delTp.L814fs--Fu2022 E
Trost2022 G
Zhou2022 GE
GIGYF1     SP0066233chr7:
100285131-100285131		GAexonicDe novostopgainNM_022574c.C370Tp.R124X46.0-Fu2022 E
Trost2022 G
Zhou2022 GE
GIGYF1     SP0009827chr7:
100280715-100280715		GGCexonicDe novoframeshift insertionNM_022574c.2331dupGp.Q778fs--Fu2022 E
Trost2022 G
Zhou2022 GE
GIGYF1     SP0110123chr7:
100285168-100285169		CACexonicDe novoframeshift deletionNM_022574c.332delTp.L111fs-3.539E-5Trost2022 G
Zhou2022 GE
GIGYF1     GX0166.p2chr7:
100285606-100285606		TCexonicUnknownnonsynonymous SNVNM_022574c.A163Gp.K55E32.02.495E-5Guo2018 T
GIGYF1     7-0427-003chr7:
100284310-100284332		GGCCCTGCTCCGAGCCTCCAGCTGexonicDe novoframeshift deletionNM_022574c.634_655delp.S212fs-8.523E-6Trost2022 G
Zhou2022 GE
GIGYF1     iHART2043chr7:
100279750-100279750		TCexonicDe novononsynonymous SNVNM_022574c.A2870Gp.Q957R17.4-Ruzzo2019 G
GIGYF1     Mahjani2021:131chr7:
100284964-100284964		GAexonicstopgainNM_022574c.C439Tp.R147X47.0-Mahjani2021 E
GIGYF1     SP0137367chr7:
100284296-100284296		CTexonicDe novononsynonymous SNVNM_022574c.G670Ap.D224N23.58.662E-6Fu2022 E
Trost2022 G
Zhou2022 GE
GIGYF1     GM173276chr7:
100285155-100285155		GAexonicDe novostopgainNM_022574c.C346Tp.R116X46.0-Fu2022 E
GIGYF1     SP0132839chr7:
100285168-100285169		CACexonicframeshift deletionNM_022574c.332delTp.L111fs-3.539E-5Zhou2022 GE
GIGYF1     HN0019.p1chr7:
100285430-100285430		GAexonicPaternalnonsynonymous SNVNM_022574c.C242Tp.P81L32.05.073E-5Guo2018 T
GIGYF1     NDAR_INVBM854JGB_wes1chr7:
100284914-100284914		GCintronicDe novo-5.912E-5Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
GIGYF1     SP0326174chr7:
100279989-100279989		CTexonicnonsynonymous SNVNM_022574c.G2717Ap.C906Y14.3-Zhou2022 GE
GIGYF1     SP0296821chr7:
100279750-100279750		TCexonicnonsynonymous SNVNM_022574c.A2870Gp.Q957R17.4-Zhou2022 GE
GIGYF1     SP0175996chr7:
100284445-100284445		GAintronic-1.667E-5Zhou2022 GE
GIGYF1     SP0264702chr7:
100282372-100282372		TCexonicnonsynonymous SNVNM_022574c.A1436Gp.Y479C16.11-Zhou2022 GE
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
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