or
or
Exact

Results for "RIMBP2"

Variant Events: 51

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
RIMBP2     1-0191-004chr12:
131038264-131038264
GAintergenicDe novo--Yuen2017 G
RIMBP2     AU2381302chr12:
131086476-131086476
AGintergenicDe novo--Yuen2017 G
RIMBP2     1-0652-003chr12:
131140587-131140587
GAintergenicDe novo--Yuen2017 G
RIMBP2     09C80376chr12:
130912840-130912840
GAexonicUnknownnonsynonymous SNVNM_015347c.C2245Tp.R749W21.61.653E-5Stessman2017 T
RIMBP2     AU038203chr12:
131075895-131075899
CAGAGCAGintergenicDe novo--Yuen2017 G
RIMBP2     AU072505chr12:
130968624-130968624
CTintronicDe novo--Yuen2017 G
RIMBP2     1-0303-003chr12:
131144375-131144375
CTintergenicDe novo--Yuen2017 G
RIMBP2     2-0242-003chr12:
131144345-131144345
TCintergenicDe novo--Yuen2017 G
RIMBP2     2-1223-003chr12:
131179006-131179006
TCintergenicDe novo--Yuen2017 G
RIMBP2     AU4069302chr12:
131208285-131208285
CTintergenicDe novo--Yuen2017 G
RIMBP2     AU060403chr12:
130931885-130931885
GAintronicDe novo--Yuen2017 G
RIMBP2     2-1702-003chr12:
131148952-131148952
GGCACACAintergenicDe novo--Yuen2017 G
RIMBP2     AU4145301chr12:
131178308-131178308
GAintergenicDe novo--Yuen2017 G
RIMBP2     1-0259-003chr12:
131144375-131144375
CTintergenicDe novo--Yuen2017 G
RIMBP2     2-1089-004chr12:
131087489-131087489
CTintergenicDe novo--Yuen2017 G
RIMBP2     AU056005chr12:
131238531-131238531
GAintergenicDe novo--Yuen2017 G
RIMBP2     1-0300-004chr12:
130883372-130883372
CCAGTTUTR3De novo--Yuen2017 G
RIMBP2     5-0017-004chr12:
131144505-131144507
CAACintergenicDe novo--Yuen2017 G
RIMBP2     2-1206-003chr12:
131195910-131195910
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
RIMBP2     2-1174-005Bchr12:
131144345-131144345
TCintergenicDe novo--Yuen2017 G
RIMBP2     AU072905chr12:
131078126-131078126
GAintergenicDe novo--Yuen2017 G
RIMBP2     7-0095-004chr12:
130938326-130938326
CCCTACAintronicDe novo--Yuen2017 G
RIMBP2     AU2711303chr12:
131086615-131086615
GAintergenicDe novo--Yuen2017 G
RIMBP2     AU3891302chr12:
131130896-131130896
CTintergenicDe novo--Yuen2017 G
RIMBP2     3-0482-000chr12:
131221481-131221481
CGintergenicDe novo--Yuen2017 G
RIMBP2     12529.p1chr12:
130922889-130922889
ACintronicDe novo-0.0056Turner2016 G
RIMBP2     14637.p1chr12:
130944737-130944737
CTintronicDe novo--Turner2016 G
RIMBP2     217-14163-2670chr12:
130935770-130935771
GGGexonicInheritedframeshift deletionNM_015347c.422delCp.S141fs--Stessman2017 T
RIMBP2     1-0567-003chr12:
131144345-131144345
TCintergenicDe novo--Yuen2017 G
RIMBP2     2-1374-003chr12:
130971731-130971731
CTintronicDe novo--Yuen2017 G
RIMBP2     1-0563-004chr12:
131109076-131109076
ACintergenicDe novo--Yuen2017 G
RIMBP2     1-0300-003chr12:
130883372-130883372
CCAGTTUTR3De novo--Yuen2017 G
RIMBP2     2-0145-004chr12:
131144375-131144375
CTintergenicDe novo--Yuen2017 G
RIMBP2     1-0325-003chr12:
130918123-130918123
AGintronicDe novo--Yuen2017 G
RIMBP2     13169.p1chr12:
131070869-131070870
CATGintergenicMaternal--Wilfert2021 G
RIMBP2     M30369chr12:
130941203-130941203
CTexonicPaternalnonsynonymous SNVNM_015347c.G145Ap.E49K35.0-Guo2018 T
RIMBP2     AU2029303chr12:
130892954-130892954
TCintronicDe novo--Yuen2017 G
RIMBP2     AU2975302chr12:
130950138-130950138
GAintronicDe novo--Yuen2017 G
RIMBP2     AU072904chr12:
131078126-131078126
GAintergenicDe novo--Yuen2017 G
RIMBP2     AU3712301chr12:
131090539-131090539
GCintergenicDe novo--Yuen2017 G
RIMBP2     217-14377-4900chr12:
130941163-130941163
CTexonicMaternalnonsynonymous SNVNM_015347c.G185Ap.R62Q35.01.67E-5Stessman2017 T
RIMBP2     AU2100302chr12:
131118817-131118817
GAintergenicDe novo--Yuen2017 G
RIMBP2     08C77810chr12:
130935769-130935770
CGCexonicDe novoframeshift deletionNM_015347c.423delCp.S141fs--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
RIMBP2     1-0279-004chr12:
131204974-131204974
CCCAGintergenicDe novo--Yuen2017 G
RIMBP2     2-1325-003chr12:
131210372-131210373
CTCintergenicDe novo--Yuen2016 G
Yuen2017 G
RIMBP2     2-1522-003chr12:
131113929-131113929
GAintergenicDe novo--Yuen2017 G
RIMBP2     1-0455-003chr12:
131053347-131053347
GTintergenicDe novo--Yuen2017 G
RIMBP2     14410.p1chr12:
130912880-130912880
CTexonicDe novosynonymous SNVNM_015347c.G2205Ap.P735P-1.685E-5Krumm2015 E
RIMBP2     2-1094-004chr12:
131144345-131144345
TCintergenicDe novo--Yuen2017 G
RIMBP2     AU2129303chr12:
130968975-130968975
GAintronicDe novo--Yuen2017 G
RIMBP2     AU2029302chr12:
130892954-130892954
TCintronicDe novo--Yuen2017 G
Source Variant Information

, -

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
More