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Results for "GIGYF1"

Variant Events: 15

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
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     11860.p1chr7:
100279943-100279943
AGsplicingDe novosplicing10.85-Ji2016 E
Krumm2015 E
Satterstrom2020 E
GIGYF1     GX0166.p2chr7:
100285606-100285606
TCexonicUnknownnonsynonymous SNVNM_022574c.A163Gp.K55E32.02.495E-5Guo2018 T
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     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
GIGYF1     14114.p1chr7:
100285168-100285169
CACexonicDe novoframeshift deletionNM_022574c.332delTp.L111fs-3.539E-5Wilfert2021 G
GIGYF1     11232.p1chr7:
100283002-100283019
TCCCCATCCCCGTTTGTCTexonicDe novoframeshift deletionNM_022574c.1140_1156delp.G380fs--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
GIGYF1     HN0019.p1chr7:
100285430-100285430
GAexonicPaternalnonsynonymous SNVNM_022574c.C242Tp.P81L32.05.073E-5Guo2018 T
GIGYF1     NDAR_INVBM854JGB_wes1chr7:
100284914-100284914
GCintronicDe novo-5.912E-5Kosmicki2017 E
Satterstrom2020 E
GIGYF1     200675722@1082034785chr7:
100280096-100280096
GCexonicDe novostopgainNM_022574c.C2610Gp.Y870X45.0-Satterstrom2020 E
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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