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Results for "GREB1L"

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
GREB1L     1-0184-003chr18:
19034602-19034602
AGintronicDe novo--Yuen2017 G
GREB1L     AU2075302chr18:
18854243-18854243
AGintronicDe novo--Yuen2017 G
GREB1L     11304.p1chr18:
19093823-19093823
CTexonicDe novosynonymous SNVNM_001142966c.C4777Tp.L1593L--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
GREB1L     AU3765302chr18:
18891329-18891329
GTintronicDe novo--Yuen2017 G
GREB1L     1-0051-005chr18:
18919108-18919108
TAintronicDe novo--Yuen2017 G
GREB1L     2-1341-004chr18:
18879096-18879096
ACintronicDe novo--Yuen2017 G
GREB1L     1-0329-003chr18:
19065132-19065132
AGintronicDe novo--Yuen2017 G
GREB1L     13019.p1chr18:
19093842-19093842
GAexonicMosaicnonsynonymous SNVNM_001142966c.G4796Ap.R1599H35.0-Dou2017 E
GREB1L     A21chr18:
18845695-18845695
TCintronicDe novo--Wu2018 G
GREB1L     2-0299-003chr18:
19063353-19063353
AGintronicDe novo--Yuen2017 G
GREB1L     1-0218-004chr18:
18920208-18920208
CTintronicDe novo--Yuen2017 G
GREB1L     1-0559-005chr18:
18921492-18921492
ACintronicDe novo--Yuen2017 G
GREB1L     1-0531-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
GREB1L     SSC02407chr18:
19093823-19093823
CTexonicDe novosynonymous SNVNM_001142966c.C4777Tp.L1593L--Lim2017 E
GREB1L     AU027506chr18:
18897962-18897962
CTintronicDe novo--Yuen2017 G
GREB1L     1-1000-003chr18:
19061923-19061923
GCintronicDe novo--Yuen2017 G
GREB1L     AU3874303chr18:
19079765-19079765
TCexonicDe novononsynonymous SNVNM_001142966c.T3467Cp.F1156S7.114-Yuen2017 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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