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Results for "GAS2L1"

Variant Events: 8

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
GAS2L1     EGAN00001101029chr22:
29704451-29704451
TGexonicDe novononsynonymous SNVNM_001278730c.T356Gp.V119G21.0-Satterstrom2020 E
Trost2022 G
Zhou2022 GE
GAS2L1     EGAN00001101022chr22:
29704440-29704440
TGexonicDe novosynonymous SNVNM_001278730c.T345Gp.G115G--Satterstrom2020 E
Trost2022 G
Zhou2022 GE
GAS2L1     SP0018673chr22:
29704281-29704281
GAexonicDe novosynonymous SNVNM_001278730c.G186Ap.L62L--Fu2022 E
Trost2022 G
Zhou2022 GE
GAS2L1     AU4176302chr22:
29707101-29707101
CAintronicDe novo--Trost2022 G
Yuen2017 G
GAS2L1     5906chr22:
29704430-29704430
TGexonicDe novononsynonymous SNVNM_001278730c.T335Gp.V112G10.261.0E-4Trost2022 G
GAS2L1     ASC_140196chr22:
29707861-29707861
CTexonicDe novounknown6.452-Fu2022 E
GAS2L1     JASD_Fam0054chr22:
29706675-29706675
GAexonicDe novosynonymous SNVNM_001278730c.G789Ap.T263T--Takata2018 E
GAS2L1     12011.p1chr22:
29704430-29704430
TGexonicDe novononsynonymous SNVNM_001278730c.T335Gp.V112G10.261.0E-4Satterstrom2020 E
Source Variant Information

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Paper alias:

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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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