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Results for "RALGAPB"

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
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     AU4235302chr20:
37171283-37171283
GAintronicDe novo--Yuen2017 G
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     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
Kosmicki2017 E
Satterstrom2020 E
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     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
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     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     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     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     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     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     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     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     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     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     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     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     1-0539-003chr20:
37126691-37126691
GAintronicDe novo--Yuen2017 G
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     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
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--Yuen2017 G
RALGAPB     12196chr20:
37198560-37198560
GCexonicDe novosynonymous SNVNM_001282917
NM_001282918
NM_020336
c.G3984C
c.G3975C
c.G3984C
p.L1328L
p.L1325L
p.L1328L
--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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