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Results for "GLYR1"

Variant Events: 14

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
GLYR1     3-0153-000chr16:
4858811-4858811
TCintronicDe novo--Trost2022 G
GLYR1     SP0036848chr16:
4871338-4871338
GCintronicDe novo--Trost2022 G
GLYR1     10C111314chr16:
4862203-4862205
CCTCexonicDe novoframeshift deletionNM_001308096
NM_032569
c.1146_1147del
c.1164_1165del
p.S382fs
p.S388fs
--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
GLYR1     7-0459-003chr16:
4880874-4880874
CTintronicDe novo--Trost2022 G
GLYR1     1-0595-004chr16:
4888713-4888713
GAintronicDe novo--Trost2022 G
GLYR1     3-0721-000chr16:
4875766-4875766
CAintronicDe novo--Trost2022 G
GLYR1     REACH000089chr16:
4878081-4878081
ATintronicDe novo--Trost2022 G
GLYR1     SMHC01320s000chr16:
4867613-4867613
GAexonicDe novononsynonymous SNVNM_001308096
NM_032569
c.C892T
c.C892T
p.R298C
p.R298C
20.3-Yuan2023 E
GLYR1     mAGRE4130chr16:
4882189-4882189
GAexonicPaternalstopgainNM_001308096
NM_032569
c.C328T
c.C328T
p.R110X
p.R110X
35.0-Cirnigliaro2023 G
GLYR1     1-0330-003chr16:
4877097-4877097
GAintronicDe novo--Trost2022 G
Yuen2017 G
GLYR1     mAGRE2827chr16:
4873820-4873820
ACsplicingPaternalsplicing17.66-Cirnigliaro2023 G
GLYR1     1-0591-003chr16:
4854604-4854604
CTUTR3De novo--Trost2022 G
Yuen2017 G
GLYR1     iHART2827chr16:
4873820-4873820
ACsplicingPaternalsplicing17.66-Ruzzo2019 G
GLYR1     AU4336301chr16:
4872641-4872641
CAintronicDe novo--Trost2022 G
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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