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Results for "GLDC"

Variant Events: 16

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
GLDC     AU4356302chr9:
6533295-6533295
CTintronicDe novo--Trost2022 G
Yuen2017 G
GLDC     AU025704chr9:
6624335-6624335
CTintronicDe novo--Trost2022 G
Yuen2017 G
GLDC     SP0024026chr9:
6605182-6605182
CTexonicDe novosynonymous SNVNM_000170c.G810Ap.E270E-8.239E-6Fu2022 E
Trost2022 G
Zhou2022 GE
GLDC     5096_202_child chr9:
6534708-6534708
GAexonicDe novosynonymous SNVNM_000170c.C2919Tp.L973L-4.399E-5Neale2012 E
GLDC     2-1152-003chr9:
6557367-6557367
GAintronicDe novo--Trost2022 G
Yuen2017 G
GLDC     10C108338chr9:
6534708-6534708
GAexonicDe novosynonymous SNVNM_000170c.C2919Tp.L973L-4.399E-5DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
GLDC     G01-GEA-37-HIchr9:
6604637-6604637
GAexonicDe novostopgainNM_000170c.C1009Tp.R337X37.08.247E-6Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
GLDC     1-0636-003chr9:
6573066-6573066
GTintronicDe novo--Yuen2017 G
GLDC     1-0552-004chr9:
6622963-6622963
GAintronicDe novo--Trost2022 G
GLDC     MSSNG00077-005chr9:
6645428-6645428
CGexonicDe novosynonymous SNVNM_000170c.G72Cp.G24G--Trost2022 G
GLDC     2-1408-003chr9:
6596767-6596767
TAintronicDe novo--Trost2022 G
GLDC     2-1358-003chr9:
6567387-6567387
CGintronicDe novo--Trost2022 G
Yuen2017 G
GLDC     5-0038-003chr9:
6619190-6619190
TGintronicDe novo--Trost2022 G
GLDC     2-1137-003chr9:
6671788-6671788
TCintergenicDe novo--Yuen2017 G
GLDC     2-0127-004chr9:
6594470-6594470
CTintronicDe novo--Trost2022 G
GLDC     2-1408-003chr9:
6596762-6596762
ATintronicDe novo--Trost2022 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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