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Results for "GIGYF2"

Variant Events: 72

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
GIGYF2     AC05-0021-04chr2:
233684582-233684582		CTexonicDe novostopgainNM_001103148
NM_001103146
NM_001103147
NM_015575		c.C2398T
c.C2416T
c.C2479T
c.C2416T		p.R800X
p.R806X
p.R827X
p.R806X		40.0-Fu2022 E
Lim2017 E
Satterstrom2020 E
GIGYF2     ACGC_M15067chr2:
233709077-233709089		AGCATTCCAACCTAexonicUnknownframeshift deletionNM_001103148
NM_001103146
NM_001103147
NM_015575		c.3082_3092del
c.3100_3110del
c.3163_3173del
c.3100_3110del		p.H1028fs
p.H1034fs
p.H1055fs
p.H1034fs		--Wang2020 T
GIGYF2     M08308chr2:
233675964-233675964		GAexonicDe novononsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.G1891A
c.G1909A
c.G1972A
c.G1909A		p.A631T
p.A637T
p.A658T
p.A637T		13.45-Guo2018 T
GIGYF2     M23762chr2:
233655745-233655745		GTexonicDe novostopgainNM_001103148
NM_001103146
NM_001103147
NM_015575		c.G940T
c.G958T
c.G1024T
c.G958T		p.E314X
p.E320X
p.E342X
p.E320X		34.0-Guo2018 T
Stessman2017 T
Stessman2017 T
Wang2016 T
GIGYF2     HN0190.p1chr2:
233709178-233709178		AGexonicMaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.A3181G
c.A3199G
c.A3262G
c.A3199G		p.S1061G
p.S1067G
p.S1088G
p.S1067G		5.6678.243E-6Guo2018 T
GIGYF2     HEN0158.p1chr2:
233675961-233675961		TCexonicMaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.T1888C
c.T1906C
c.T1969C
c.T1906C		p.Y630H
p.Y636H
p.Y657H
p.Y636H		14.248.254E-6Guo2018 T
GIGYF2     ACGC_M15185chr2:
233677147-233677147		GAexonicPaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.G2035A
c.G2053A
c.G2116A
c.G2053A		p.V679M
p.V685M
p.V706M
p.V685M		17.911.652E-5Wang2020 T
GIGYF2     2-0110-003chr2:
233648087-233648098		GTTTATTTATTTGTTTATTTintronicDe novo--Yuen2017 G
GIGYF2     ACGC_M17539chr2:
233677147-233677147		GAexonicMaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.G2035A
c.G2053A
c.G2116A
c.G2053A		p.V679M
p.V685M
p.V706M
p.V685M		17.911.652E-5Wang2020 T
GIGYF2     M15217chr2:
233655527-233655527		AGexonicPaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.A814G
c.A832G
c.A898G
c.A832G		p.I272V
p.I278V
p.I300V
p.I278V		9.8712.0E-4Wang2016 T
GIGYF2     M19744chr2:
233656136-233656136		AGexonicPaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.A1244G
c.A1262G
c.A1325G
c.A1262G		p.K415R
p.K421R
p.K442R
p.K421R		11.427.83E-5Wang2016 T
GIGYF2     SSC08593chr2:
233712061-233712061		CGexonicDe novononsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.C3446G
c.C3464G
c.C3527G
c.C3464G		p.P1149R
p.P1155R
p.P1176R
p.P1155R		23.4-Fu2022 E
GIGYF2     14533.p1chr2:
233675982-233675982		CTexonicDe novostopgainNM_001103148
NM_001103146
NM_001103147
NM_015575		c.C1909T
c.C1927T
c.C1990T
c.C1927T		p.Q637X
p.Q643X
p.Q664X
p.Q643X		37.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
GIGYF2     M15185chr2:
233677147-233677147		GAexonicPaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.G2035A
c.G2053A
c.G2116A
c.G2053A		p.V679M
p.V685M
p.V706M
p.V685M		17.911.652E-5Guo2018 T
Wang2016 T
GIGYF2     36806chr2:
233675982-233675982		CTexonicDe novostopgainNM_001103148
NM_001103146
NM_001103147
NM_015575		c.C1909T
c.C1927T
c.C1990T
c.C1927T		p.Q637X
p.Q643X
p.Q664X
p.Q643X		37.0-Fu2022 E
GIGYF2     M27812chr2:
233659563-233659563		GAexonicPaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.G1370A
c.G1388A
c.G1451A
c.G1388A		p.R457Q
p.R463Q
p.R484Q
p.R463Q		14.831.0E-4Guo2018 T
Wang2016 T
GIGYF2     M20406chr2:
233704609-233704609		GCexonicMaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.G2799C
c.G2817C
c.G2880C
c.G2817C		p.Q933H
p.Q939H
p.Q960H
p.Q939H		13.91-Guo2018 T
Wang2016 T
GIGYF2     M19802chr2:
233612356-233612356		AGexonicPaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.A73G
c.A73G
c.A73G
c.A73G		p.T25A
p.T25A
p.T25A
p.T25A		14.15.0E-4Wang2016 T
GIGYF2     M20250chr2:
233612356-233612356		AGexonicPaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.A73G
c.A73G
c.A73G
c.A73G		p.T25A
p.T25A
p.T25A
p.T25A		14.15.0E-4Wang2016 T
GIGYF2     09C86398chr2:
233681583-233681583		AGexonicDe novosynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.A2193G
c.A2211G
c.A2274G
c.A2211G		p.L731L
p.L737L
p.L758L
p.L737L		-1.652E-5Fu2022 E
Satterstrom2020 E
GIGYF2     M12526chr2:
233704659-233704659		GAexonicUnknownnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.G2849A
c.G2867A
c.G2930A
c.G2867A		p.R950Q
p.R956Q
p.R977Q
p.R956Q		36.04.135E-5Guo2018 T
Wang2016 T
GIGYF2     AU4029302chr2:
233682583-233682583		ATintronicDe novo--Yuen2017 G
GIGYF2     M31959chr2:
233659479-233659479		AGexonicMaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.A1286G
c.A1304G
c.A1367G
c.A1304G		p.Q429R
p.Q435R
p.Q456R
p.Q435R		12.71-Guo2018 T
GIGYF2     1-0556-003chr2:
233676246-233676246		GAintronicDe novo--Yuen2017 G
GIGYF2     GX0527.p1chr2:
233704620-233704620		CTexonicMaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.C2810T
c.C2828T
c.C2891T
c.C2828T		p.T937M
p.T943M
p.T964M
p.T943M		18.74-Guo2018 T
GIGYF2     APP_108602-100chr2:
233655450-233655450		GAexonicUnknownnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.G737A
c.G755A
c.G821A
c.G755A		p.R246H
p.R252H
p.R274H
p.R252H		34.0-Wang2020 T
GIGYF2     M32295chr2:
233659563-233659563		GAexonicMaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.G1370A
c.G1388A
c.G1451A
c.G1388A		p.R457Q
p.R463Q
p.R484Q
p.R463Q		14.831.0E-4Guo2018 T
GIGYF2     Leuven2_60066750chr2:
233655600-233655600		CTexonicUnknownnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.C887T
c.C905T
c.C971T
c.C905T		p.S296L
p.S302L
p.S324L
p.S302L		32.0-Wang2020 T
GIGYF2     1-0720-003chr2:
233644702-233644702		AGintronicDe novo--Yuen2017 G
GIGYF2     M15067chr2:
233709077-233709089		AGCATTCCAACCTAexonicUnknownframeshift deletionNM_001103148
NM_001103146
NM_001103147
NM_015575		c.3082_3092del
c.3100_3110del
c.3163_3173del
c.3100_3110del		p.H1028fs
p.H1034fs
p.H1055fs
p.H1034fs		--Guo2018 T
Wang2016 T
GIGYF2     2-1408-004chr2:
233620306-233620306		CTintronicDe novo--Yuen2017 G
GIGYF2     M21301chr2:
233671257-233671257		TG/TexonicMaternal--Guo2018 T
GIGYF2     M08641chr2:
233613755-233613755		CTexonicMaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.C230T
c.C230T
c.C230T
c.C230T		p.P77L
p.P77L
p.P77L
p.P77L		3.17-Guo2018 T
GIGYF2     Leuven_320515chr2:
233655446-233655446		CTexonicUnknownstopgainNM_001103148
NM_001103146
NM_001103147
NM_015575		c.C733T
c.C751T
c.C817T
c.C751T		p.R245X
p.R251X
p.R273X
p.R251X		37.0-Wang2020 T
GIGYF2     ASDFI_1650chr2:
233704659-233704659		GAexonicDe novo, Unknownnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.G2849A
c.G2867A
c.G2930A
c.G2867A		p.R950Q
p.R956Q
p.R977Q
p.R956Q		36.04.135E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Wang2020 T
GIGYF2     2-1501-003chr2:
233682815-233682815		ATintronicDe novo--Yuen2017 G
GIGYF2     08C77632chr2:
233677165-233677165		AGexonicDe novononsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.A2053G
c.A2071G
c.A2134G
c.A2071G		p.I685V
p.I691V
p.I712V
p.I691V		12.32-Fu2022 E
Satterstrom2020 E
GIGYF2     Lim2017:36806chr2:
233675982-233675982		CTexonicDe novostopgainNM_001103148
NM_001103146
NM_001103147
NM_015575		c.C1909T
c.C1927T
c.C1990T
c.C1927T		p.Q637X
p.Q643X
p.Q664X
p.Q643X		37.0-Lim2017 E
GIGYF2     M17539chr2:
233677147-233677147		GA/GexonicMaternal--Guo2018 T
GIGYF2     SP0032114chr2:
233600694-233600694		TCintronicDe novo--Fu2022 E
GIGYF2     M08563chr2:
233676047-233676047		GC/GexonicMaternal--Guo2018 T
GIGYF2     M17637chr2:
233655615-233655615		TGexonicMaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.T902G
c.T920G
c.T986G
c.T920G		p.L301R
p.L307R
p.L329R
p.L307R		18.28.241E-5Wang2016 T
GIGYF2     M21566chr2:
233671257-233671257		TGexonicMaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.T1678G
c.T1696G
c.T1759G
c.T1696G		p.S560A
p.S566A
p.S587A
p.S566A		17.88.237E-6Guo2018 T
Wang2016 T
GIGYF2     3-0392-000chr2:
233731449-233731449		ACintergenicDe novo--Yuen2016 G
GIGYF2     SSC12556chr2:
233675982-233675982		CTexonicstopgainNM_001103148
NM_001103146
NM_001103147
NM_015575		c.C1909T
c.C1927T
c.C1990T
c.C1927T		p.Q637X
p.Q643X
p.Q664X
p.Q643X		37.0-Antaki2022 GE
GIGYF2     ACGC_GZ0003.p1chr2:
233626107-233626107		GTexonicUnknownnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.G493T
c.G493T
c.G493T
c.G493T		p.G165C
p.G165C
p.G165C
p.G165C		21.08.283E-6Wang2020 T
GIGYF2     ACGC_M15008chr2:
233659562-233659562		CTexonicUnknownnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.C1369T
c.C1387T
c.C1450T
c.C1387T		p.R457W
p.R463W
p.R484W
p.R463W		19.371.648E-5Wang2020 T
GIGYF2     SAGE_TIGER_90044-201chr2:
233660821-233660821		AGexonicDe novononsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.A1511G
c.A1529G
c.A1592G
c.A1529G		p.E504G
p.E510G
p.E531G
p.E510G		32.0-Wang2020 T
GIGYF2     M8308chr2:
233675964-233675964		GAexonicDe novononsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.G1891A
c.G1909A
c.G1972A
c.G1909A		p.A631T
p.A637T
p.A658T
p.A637T		13.45-Wang2016 T
GIGYF2     ACGC_M23762chr2:
233655745-233655745		GTexonicDe novostopgainNM_001103148
NM_001103146
NM_001103147
NM_015575		c.G940T
c.G958T
c.G1024T
c.G958T		p.E314X
p.E320X
p.E342X
p.E320X		34.0-Wang2020 T
GIGYF2     M8641chr2:
233613755-233613755		CTexonicMaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.C230T
c.C230T
c.C230T
c.C230T		p.P77L
p.P77L
p.P77L
p.P77L		3.17-Wang2016 T
GIGYF2     M23679chr2:
233671353-233671353		CTexonicMaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.C1774T
c.C1792T
c.C1855T
c.C1792T		p.P592S
p.P598S
p.P619S
p.P598S		22.7-Guo2018 T
Wang2016 T
GIGYF2     AU3703302chr2:
233604531-233604531		CTintronicDe novo--Yuen2017 G
GIGYF2     M15196chr2:
233712060-233712060		CAexonicMaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.C3445A
c.C3463A
c.C3526A
c.C3463A		p.P1149T
p.P1155T
p.P1176T
p.P1155T		23.93.0E-4Wang2016 T
GIGYF2     HN0144.p1chr2:
233671353-233671353		CTexonicPaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.C1774T
c.C1792T
c.C1855T
c.C1792T		p.P592S
p.P598S
p.P619S
p.P598S		22.7-Guo2018 T
GIGYF2     GX0552.p1chr2:
233671311-233671311		AGexonicPaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.A1732G
c.A1750G
c.A1813G
c.A1750G		p.M578V
p.M584V
p.M605V
p.M584V		18.9-Guo2018 T
GIGYF2     HEN0100.p1chr2:
233681692-233681692		GAexonicPaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.G2302A
c.G2320A
c.G2383A
c.G2320A		p.E768K
p.E774K
p.E795K
p.E774K		16.15-Guo2018 T
GIGYF2     HEN0297.p1chr2:
233677147-233677147		GA/GexonicPaternal--Guo2018 T
GIGYF2     13611.p1chr2:
233712061-233712061		CGexonicDe novononsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.C3446G
c.C3464G
c.C3527G
c.C3464G		p.P1149R
p.P1155R
p.P1176R
p.P1155R		23.4-Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
GIGYF2     GX0287.p1chr2:
233655725-233655725		AGexonicPaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.A920G
c.A938G
c.A1004G
c.A938G		p.Q307R
p.Q313R
p.Q335R
p.Q313R		17.1-Guo2018 T
GIGYF2     320515chr2:
233655446-233655446		CTexonicInheritedstopgainNM_001103148
NM_001103146
NM_001103147
NM_015575		c.C733T
c.C751T
c.C817T
c.C751T		p.R245X
p.R251X
p.R273X
p.R251X		37.0-Stessman2017 T
GIGYF2     M31863chr2:
233709178-233709178		AGexonicPaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.A3181G
c.A3199G
c.A3262G
c.A3199G		p.S1061G
p.S1067G
p.S1088G
p.S1067G		5.6678.243E-6Guo2018 T
GIGYF2     GX0022.p1chr2:
233681597-233681597		GAexonicPaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.G2207A
c.G2225A
c.G2288A
c.G2225A		p.R736K
p.R742K
p.R763K
p.R742K		11.788.255E-6Guo2018 T
GIGYF2     TASC_210-18178-301chr2:
233612432-233612432		CTexonicMaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.C149T
c.C149T
c.C149T
c.C149T		p.A50V
p.A50V
p.A50V
p.A50V		35.0-Wang2020 T
GIGYF2     AGRE_AU2487301chr2:
233612432-233612432		CTexonicMaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.C149T
c.C149T
c.C149T
c.C149T		p.A50V
p.A50V
p.A50V
p.A50V		35.0-Wang2020 T
GIGYF2     AU3984301chr2:
233733475-233733481		CCAAACACCAintergenicDe novo--Yuen2017 G
GIGYF2     M30940chr2:
233715059-233715059		GCexonicPaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.G3754C
c.G3772C
c.G3835C
c.G3772C		p.V1252L
p.V1258L
p.V1279L
p.V1258L		17.53-Guo2018 T
GIGYF2     1-0971-003chr2:
233655935-233655935		CGintronicDe novo--Yuen2017 G
GIGYF2     M01903chr2:
233659563-233659563		GA/GexonicPaternal--Guo2018 T
GIGYF2     M26843chr2:
233656136-233656136		AGexonicMaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.A1244G
c.A1262G
c.A1325G
c.A1262G		p.K415R
p.K421R
p.K442R
p.K421R		11.427.83E-5Wang2016 T
GIGYF2     M1763chr2:
233612356-233612356		AGexonicMaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.A73G
c.A73G
c.A73G
c.A73G		p.T25A
p.T25A
p.T25A
p.T25A		14.15.0E-4Wang2016 T
GIGYF2     M2213chr2:
233655527-233655527		AGexonicMaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.A814G
c.A832G
c.A898G
c.A832G		p.I272V
p.I278V
p.I300V
p.I278V		9.8712.0E-4Wang2016 T
Source Variant Information

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Paper Information
Title
Authors
Technology
Variant source
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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.
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