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Results for "RLF"

Variant Events: 21

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
RLF     Wang2023:168chr1:
40702911-40702911
GTexonicDe novononsynonymous SNVNM_012421c.G2537Tp.G846V5.282-Wang2023 E
RLF     SP0041018chr1:
40703212-40703216
AGTTTAexonicDe novoframeshift deletionNM_012421c.2839_2842delp.V947fs--Antaki2022 GE
Fu2022 E
Zhou2022 GE
RLF     11734.p1chr1:
40702530-40702530
GAexonicMosaic, De novononsynonymous SNVNM_012421c.G2156Ap.C719Y17.21-Dou2017 E
Ji2016 E
Krumm2015 E
RLF     5-0087-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
RLF     2-1788-003chr1:
40688403-40688403
ATintronicDe novo--Trost2022 G
RLF     7-0454-003chr1:
40650630-40650631
TGTintronicDe novo--Trost2022 G
RLF     MSSNG00432-003chr1:
40695699-40695699
TCintronicDe novo--Trost2022 G
RLF     SP0048064chr1:
40704329-40704329
TCexonicDe novononsynonymous SNVNM_012421c.T3955Cp.S1319P17.9-Fu2022 E
Trost2022 G
Zhou2022 GE
RLF     1-1212-003chr1:
40626807-40626807
TGupstreamDe novo--Trost2022 G
RLF     4A588chr1:
40656542-40656548
TCAGAAATintronicDe novo--Satterstrom2020 E
Trost2022 G
RLF     AU002903chr1:
40670752-40670752
AGintronicDe novo--Trost2022 G
Yuen2017 G
RLF     3-0847-000chr1:
40627703-40627703
TGintronicDe novo--Trost2022 G
RLF     1-0120-003chr1:
40684578-40684578
GAintronicDe novo--Trost2022 G
Yuen2017 G
RLF     SP0036733chr1:
40706081-40706081
AGexonicDe novononsynonymous SNVNM_012421c.A5707Gp.T1903A12.66-Fu2022 E
Trost2022 G
Zhou2022 GE
RLF     3-0847-000chr1:
40626976-40626976
CGupstreamDe novo--Trost2022 G
RLF     2-1330-003chr1:
40692152-40692152
GAintronicDe novo--Yuen2016 G
Yuen2017 G
RLF     SP0031033chr1:
40702012-40702012
ATexonicnonsynonymous SNVNM_012421c.A1638Tp.R546S15.21-Zhou2022 GE
RLF     14370.p1chr1:
40693777-40693777
TCintronicDe novo--Turner2016 G
RLF     14370.p1chr1:
40693786-40693786
AGintronicDe novo--Turner2016 G
RLF     13874.p1chr1:
40662985-40662985
ATintronicDe novo--Turner2016 G
RLF     14370.p1chr1:
40693775-40693775
GAintronicDe novo--Turner2016 G
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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