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Results for "GNL2"

Variant Events: 20

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
GNL2     Marques2022:46chr1:
38056362-38056362
AGexonicnonsynonymous SNVNM_013285c.T329Cp.V110A32.0-Marques2022 ET
GNL2     1-0272-003chr1:
38040799-38040799
ATintronicDe novo--Trost2022 G
Yuen2017 G
GNL2     Marques2022:45chr1:
38056336-38056336
AGexonicnonsynonymous SNVNM_013285c.T355Cp.S119P26.4-Marques2022 ET
GNL2     Marques2022:48chr1:
38059364-38059364
TCexonicnonsynonymous SNVNM_013285c.A148Gp.R50G22.46.602E-5Marques2022 ET
GNL2     2-1823-004chr1:
38039602-38039602
TCintronicDe novo--Trost2022 G
GNL2     Marques2022:47chr1:
38058381-38058381
GAexonicnonsynonymous SNVNM_013285c.C176Tp.P59L19.213.0E-4Marques2022 ET
GNL2     Marques2022:42chr1:
38049504-38049504
CGexonicnonsynonymous SNVNM_013285c.G600Cp.K200N17.857.0E-4Marques2022 ET
GNL2     Marques2022:41chr1:
38049504-38049504
CGexonicnonsynonymous SNVNM_013285c.G600Cp.K200N17.857.0E-4Marques2022 ET
GNL2     Marques2022:44chr1:
38053077-38053077
ACexonicnonsynonymous SNVNM_013285c.T404Gp.L135R17.78.274E-6Marques2022 ET
GNL2     Marques2022:43chr1:
38053027-38053027
GAexonicstopgainNM_013285c.C454Tp.R152X35.0-Marques2022 ET
GNL2     SP0029592chr1:
38034746-38034746
ACexonicDe novononsynonymous SNVNM_013285c.T1574Gp.I525S15.39-Fu2022 E
Trost2022 G
Zhou2022 GE
GNL2     SSC06229chr1:
38056494-38056494
CTintronicDe novo--Trost2022 G
GNL2     MSSNG00380-003chr1:
38046902-38046902
GCintronicDe novo--Trost2022 G
GNL2     mAGRE4378chr1:
38032602-38032602
GAexonicMaternalstopgainNM_013285c.C2050Tp.R684X38.08.25E-6Cirnigliaro2023 G
GNL2     12803.p1chr1:
38056494-38056494
CTintronicDe novo--Satterstrom2020 E
GNL2     Marques2022:38chr1:
38040295-38040295
GAexonicnonsynonymous SNVNM_013285c.C1273Tp.L425F22.4-Marques2022 ET
GNL2     Marques2022:37chr1:
38032607-38032607
CTexonicnonsynonymous SNVNM_013285c.G2045Ap.R682Q23.40.0012Marques2022 ET
GNL2     Marques2022:40chr1:
38048426-38048426
GTexonicnonsynonymous SNVNM_013285c.C748Ap.L250I20.5-Marques2022 ET
GNL2     Marques2022:39chr1:
38048425-38048425
AGexonicnonsynonymous SNVNM_013285c.T749Cp.L250P26.3-Marques2022 ET
GNL2     Marques2022:36chr1:
38032584-38032584
GAexonicnonsynonymous SNVNM_013285c.C2068Tp.R690W15.275.768E-5Marques2022 ET
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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