or
or
Exact

Results for "RAD54L2"

Variant Events: 17

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
RAD54L2     2-0145-004chr3:
51629961-51629961
TTTGTTTTTTGGGTTTGintronicDe novo--Yuen2017 G
RAD54L2     2-1561-003chr3:
51682569-51682569
GAintronicDe novo--Yuen2017 G
RAD54L2     2-0022-005chr3:
51609156-51609156
CTintronicDe novo--Yuen2017 G
RAD54L2     1-0455-003chr3:
51630214-51630214
AGintronicDe novo--Yuen2017 G
RAD54L2     5-0040-003chr3:
51630204-51630204
AAGGTTCintronicDe novo--Yuen2017 G
RAD54L2     2-0149-005chr3:
51613298-51613298
GAintronicDe novo--Yuen2017 G
RAD54L2     Li2017:20603chr3:
51667925-51667925
CTexonicUnknownnonsynonymous SNVNM_015106c.C1016Tp.T339I25.9-Li2017 T
RAD54L2     Codina-Sola2015:ASD_34chr3:
51661610-51661610
TAexonicPaternalnonsynonymous SNVNM_015106c.T181Ap.L61M13.63-Codina-Sola2015 E
RAD54L2     1-0161-003chr3:
51629961-51629961
TTGGGTTTGintronicDe novo--Yuen2017 G
RAD54L2     5-0084-003chr3:
51629961-51629961
TTGGGTTTGintronicDe novo--Yuen2017 G
RAD54L2     1-0494-003chr3:
51629961-51629961
TTTTTTTGTTTTTTGGGTTTGintronicDe novo--Yuen2017 G
RAD54L2     Li2017:18334chr3:
51661637-51661637
CTexonicUnknownnonsynonymous SNVNM_015106c.C208Tp.R70W26.90.0044Li2017 T
RAD54L2     2-0182-003chr3:
51629962-51629962
TTATTTTAintronicDe novo--Yuen2017 G
RAD54L2     2-0307-004chr3:
51629961-51629961
TTGGGTTTGintronicDe novo--Yuen2017 G
RAD54L2     DEASD_0020_001chr3:
51696843-51696843
CTexonicDe novononsynonymous SNVNM_015106c.C3811Tp.R1271W14.732.718E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
RAD54L2     1-0269-005chr3:
51629955-51629955
TTGintronicDe novo--Yuen2017 G
RAD54L2     AU3888302chr3:
51609772-51609772
AGintronicDe 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