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Results for "RALGAPB"

Variant Events: 57

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
RALGAPB     M16269chr20:
37161406-37161406		CTexonicPaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.C2149T
c.C2149T
c.C2149T		p.R717C
p.R717C
p.R717C		32.02.471E-5Guo2018 T
Guo2018 T
Wang2016 T
RALGAPB     GX0207.p1chr20:
37144863-37144863		AGexonicPaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.A901G
c.A901G
c.A901G		p.I301V
p.I301V
p.I301V		5.3123.312E-5Guo2018 T
RALGAPB     GX0477.p1chr20:
37144936-37144936		AGexonicDe novononsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.A974G
c.A974G
c.A974G		p.Y325C
p.Y325C
p.Y325C		22.7-Guo2018 T
RALGAPB     GX0153.p1chr20:
37117109-37117109		AGexonicPaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.A34G
c.A34G
c.A34G		p.I12V
p.I12V
p.I12V		11.271.648E-5Guo2018 T
RALGAPB     GX0107.p1chr20:
37182552-37182552		CGexonicPaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.C3205G
c.C3193G
c.C3205G		p.Q1069E
p.Q1065E
p.Q1069E		17.7-Guo2018 T
RALGAPB     HN0102.p1chr20:
37161410-37161410		CTexonicPaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.C2153T
c.C2153T
c.C2153T		p.T718I
p.T718I
p.T718I		24.5-Guo2018 T
RALGAPB     M30901chr20:
37182601-37182601		AGexonicPaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.A3254G
c.A3242G
c.A3254G		p.Q1085R
p.Q1081R
p.Q1085R		9.4755.0E-4Guo2018 T
RALGAPB     GX0302.p1chr20:
37150142-37150142		ATexonicPaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.A1420T
c.A1420T
c.A1420T		p.I474F
p.I474F
p.I474F		9.8518.239E-6Guo2018 T
RALGAPB     M30952chr20:
37144918-37144918		CTexonicPaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.C956T
c.C956T
c.C956T		p.P319L
p.P319L
p.P319L		17.935.766E-5Guo2018 T
RALGAPB     GX0341.p1chr20:
37154561-37154561		TTAexonicDe novoframeshift insertionNM_001282917
NM_001282918
NM_020336		c.1927dupA
c.1927dupA
c.1927dupA		p.S642fs
p.S642fs
p.S642fs		--Guo2018 T
RALGAPB     M32098chr20:
37154615-37154615		GCexonicPaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.G1980C
c.G1980C
c.G1980C		p.L660F
p.L660F
p.L660F		19.858.24E-6Guo2018 T
RALGAPB     M30624chr20:
37150142-37150142		ATexonicPaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.A1420T
c.A1420T
c.A1420T		p.I474F
p.I474F
p.I474F		9.8518.239E-6Guo2018 T
RALGAPB     M16248chr20:
37174887-37174887		AGexonicPaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.A2716G
c.A2704G
c.A2716G		p.I906V
p.I902V
p.I906V		14.22-Guo2018 T
RALGAPB     M27823chr20:
37146533-37146533		GAexonicPaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.G1307A
c.G1307A
c.G1307A		p.R436Q
p.R436Q
p.R436Q		10.18.238E-6Guo2018 T
RALGAPB     1-0449-003chr20:
37154050-37154050		ATexonicnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.A1791T
c.A1791T
c.A1791T		p.E597D
p.E597D
p.E597D		12.31-Zhou2022 GE
RALGAPB     M19574chr20:
37203599-37203599		TCexonicPaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.T4474C
c.T4465C
c.T4474C		p.C1492R
p.C1489R
p.C1492R		17.752.477E-5Guo2018 T
RALGAPB     HEN0142.p1chr20:
37146290-37146290		CTexonicMaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.C1193T
c.C1193T
c.C1193T		p.T398I
p.T398I
p.T398I		14.26-Guo2018 T
RALGAPB     GX0545.p1chr20:
37126030-37126030		TAexonicMaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.T424A
c.T424A
c.T424A		p.L142I
p.L142I
p.L142I		15.77-Guo2018 T
RALGAPB     M03693chr20:
37144918-37144918		CTexonicPaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.C956T
c.C956T
c.C956T		p.P319L
p.P319L
p.P319L		17.935.766E-5Guo2018 T
RALGAPB     JS0003.p1chr20:
37174905-37174905		GTexonicMaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.G2734T
c.G2722T
c.G2734T		p.A912S
p.A908S
p.A912S		15.5-Guo2018 T
RALGAPB     Lim2017:12196chr20:
37198560-37198560		GCexonicDe novosynonymous SNVNM_001282917
NM_001282918
NM_020336		c.G3984C
c.G3975C
c.G3984C		p.L1328L
p.L1325L
p.L1328L		--Lim2017 E
RALGAPB     SP0012778chr20:
37168452-37168452		CTexonicstopgainNM_001282917
NM_001282918
NM_020336		c.C2413T
c.C2401T
c.C2413T		p.R805X
p.R801X
p.R805X		47.0-Antaki2022 GE
Zhou2022 GE
RALGAPB     AU4235302chr20:
37171283-37171283		GAintronicDe novo--Trost2022 G
Yuen2017 G
RALGAPB     SSC10120chr20:
37203608-37203610		TAGTexonicframeshift deletionNM_001282917
NM_001282918
NM_020336		c.4484_4485del
c.4475_4476del
c.4484_4485del		p.*1495fs
p.*1492fs
p.*1495fs		--Antaki2022 GE
RALGAPB     SP0022812chr20:
37182600-37182605		CAGAAGCexonicDe novoframeshift deletionNM_001282917
NM_001282918
NM_020336		c.3254_3258del
c.3242_3246del
c.3254_3258del		p.Q1085fs
p.Q1081fs
p.Q1085fs		--Antaki2022 GE
Fu2022 E
Zhou2022 GE
RALGAPB     DEASD_0338_001chr20:
37137843-37137845		CATCexonicDe novoframeshift deletionNM_001282917
NM_001282918
NM_020336		c.865_866del
c.865_866del
c.865_866del		p.M289fs
p.M289fs
p.M289fs		--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
RALGAPB     09C90753Achr20:
37186988-37186988		GAexonicDe novosynonymous SNVNM_001282917
NM_001282918
NM_020336		c.G3423A
c.G3411A
c.G3423A		p.T1141T
p.T1137T
p.T1141T		--DeRubeis2014 E
Kosmicki2017 E
Zhou2022 GE
RALGAPB     MSSNG00359-003chr20:
37127229-37127229		GAintronicDe novo--Trost2022 G
RALGAPB     GX0132.p1chr20:
37194104-37194104		CTexonicMaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.C3800T
c.C3791T
c.C3800T		p.S1267F
p.S1264F
p.S1267F		27.1-Guo2018 T
RALGAPB     MSSNG00054-004chr20:
37115251-37115251		GCintronicDe novo--Trost2022 G
RALGAPB     GX0312.p1chr20:
37161478-37161478		GAexonicMaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.G2221A
c.G2221A
c.G2221A		p.A741T
p.A741T
p.A741T		17.34-Guo2018 T
RALGAPB     GX0252.p1chr20:
37128145-37128145		GTexonicMaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.G609T
c.G609T
c.G609T		p.W203C
p.W203C
p.W203C		24.6-Guo2018 T
RALGAPB     GX0195.p1chr20:
37182541-37182541		GAexonicMaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.G3194A
c.G3182A
c.G3194A		p.G1065D
p.G1061D
p.G1065D		14.64-Guo2018 T
RALGAPB     GX0304.p1chr20:
37174895-37174895		GCexonicMaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.G2724C
c.G2712C
c.G2724C		p.Q908H
p.Q904H
p.Q908H		20.4-Guo2018 T
RALGAPB     M08713chr20:
37146450-37146450		ATexonicMaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.A1224T
c.A1224T
c.A1224T		p.K408N
p.K408N
p.K408N		12.53-Guo2018 T
RALGAPB     HEN0249.p1chr20:
37126129-37126129		GAexonicMaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.G523A
c.G523A
c.G523A		p.D175N
p.D175N
p.D175N		35.01.648E-5Guo2018 T
Guo2018 T
RALGAPB     M08587chr20:
37144863-37144863		AGexonicMaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.A901G
c.A901G
c.A901G		p.I301V
p.I301V
p.I301V		5.3123.312E-5Guo2018 T
RALGAPB     HEN0254.p1chr20:
37137722-37137722		TCexonicPaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.T743C
c.T743C
c.T743C		p.L248S
p.L248S
p.L248S		25.7-Guo2018 T
RALGAPB     MSSNG00375-003chr20:
37192213-37192213		ACintronicDe novo--Trost2022 G
RALGAPB     M17496chr20:
37146464-37146464		CTexonicMaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.C1238T
c.C1238T
c.C1238T		p.T413M
p.T413M
p.T413M		13.348.238E-5Guo2018 T
RALGAPB     SP0037688chr20:
37191148-37191148		AGintronicDe novo--Fu2022 E
RALGAPB     SP0017245chr20:
37191154-37191154		GCintronicDe novo--Trost2022 G
RALGAPB     2-1339-003chr20:
37182250-37182251		CTAAintronicDe novo--Trost2022 G
RALGAPB     MT_186.3chr20:
37166144-37166144		AGintronicDe novo--Trost2022 G
RALGAPB     M17697chr20:
37137737-37137737		AGexonicMaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.A758G
c.A758G
c.A758G		p.Y253C
p.Y253C
p.Y253C		20.68.238E-6Guo2018 T
RALGAPB     SP0058568chr20:
37146327-37146327		AGintronicDe novo-8.252E-6Trost2022 G
RALGAPB     1-0539-003chr20:
37126691-37126691		GAintronicDe novo--Trost2022 G
Yuen2017 G
RALGAPB     5-2005-003chr20:
37135323-37135323		AGintronicDe novo--Trost2022 G
RALGAPB     GX0537.p1chr20:
37203501-37203501		GAexonicUnknownnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.G4376A
c.G4367A
c.G4376A		p.R1459Q
p.R1456Q
p.R1459Q		35.0-Guo2018 T
RALGAPB     HEN0062.p1chr20:
37169834-37169834		TCexonicPaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.T2713C
c.T2701C
c.T2713C		p.C905R
p.C901R
p.C905R		22.18.258E-6Guo2018 T
RALGAPB     SP0008074chr20:
37150289-37150289		AATexonicDe novoframeshift insertionNM_001282917
NM_001282918
NM_020336		c.1568dupT
c.1568dupT
c.1568dupT		p.I523fs
p.I523fs
p.I523fs		--Feliciano2019 E
Fu2022 E
Zhou2022 GE
RALGAPB     M13385chr20:
37168453-37168453		GAexonicUnknownnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.G2414A
c.G2402A
c.G2414A		p.R805Q
p.R801Q
p.R805Q		37.01.0E-4Guo2018 T
Wang2016 T
RALGAPB     HEN0094.p1chr20:
37174902-37174902		GAexonicPaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.G2731A
c.G2719A
c.G2731A		p.G911S
p.G907S
p.G911S		34.08.241E-6Guo2018 T
Guo2018 T
RALGAPB     JS0003.p1chr20:
37144972-37144972		GAexonicPaternalnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.G1010A
c.G1010A
c.G1010A		p.R337H
p.R337H
p.R337H		34.08.248E-6Guo2018 T
RALGAPB     1-0490-003chr20:
37207891-37207891		CTdownstreamDe novo--Trost2022 G
Yuen2017 G
RALGAPB     SP0240217chr20:
37195738-37195738		GAsplicingDe novosplicing21.4-Trost2022 G
Zhou2022 GE
RALGAPB     12196chr20:
37198560-37198560		GCexonicDe novosynonymous SNVNM_001282917
NM_001282918
NM_020336		c.G3984C
c.G3975C
c.G3984C		p.L1328L
p.L1325L
p.L1328L		--Fu2022 E
Satterstrom2020 E
Trost2022 G
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
Curation notesView
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