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Results for "GON4L"

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
GON4L     NDAR_INVEB022VLQ_wes1chr1:
155734686-155734686
GTexonicDe novosynonymous SNVNM_001282861
NM_032292
c.C4578A
c.C4578A
p.I1526I
p.I1526I
--Lim2017 E
GON4L     1-0508-003chr1:
155811902-155811902
GAintronicDe novo--Yuen2017 G
GON4L     2-1206-003chr1:
155772906-155772906
CAintronicDe novo--Yuen2016 G
Yuen2017 G
GON4L     1-0372-003chr1:
155744615-155744615
CTintronicDe novo--Yuen2016 G
Yuen2017 G
GON4L     SSC07823chr1:
155792248-155792248
TGexonicDe novononsynonymous SNVNM_001282856
NM_001282858
NM_001282860
NM_001282861
NM_032292
c.A717C
c.A717C
c.A717C
c.A717C
c.A717C
p.E239D
p.E239D
p.E239D
p.E239D
p.E239D
15.2-Lim2017 E
GON4L     SSC02037chr1:
155736011-155736011
GAexonicDe novosynonymous SNVNM_001282856
NM_001282858
NM_001282860
NM_001282861
NM_032292
c.C3253T
c.C3253T
c.C3253T
c.C3253T
c.C3253T
p.L1085L
p.L1085L
p.L1085L
p.L1085L
p.L1085L
--Lim2017 E
GON4L     AU056003chr1:
155726632-155726632
ATintronicDe novo--Yuen2017 G
GON4L     1-0595-004chr1:
155795258-155795258
GTintronicDe novo--Yuen2017 G
GON4L     2-1389-003chr1:
155778353-155778353
TAintronicDe novo--Yuen2016 G
Yuen2017 G
GON4L     2-1629-003chr1:
155750435-155750435
GTintronicDe novo--Yuen2017 G
GON4L     AU4159302chr1:
155722729-155722729
GAintronicDe novo--Yuen2017 G
GON4L     11869.p1chr1:
155735530-155735530
ACexonicDe novononsynonymous SNVNM_001282856
NM_001282858
NM_001282860
NM_001282861
NM_032292
c.T3734G
c.T3734G
c.T3734G
c.T3734G
c.T3734G
p.L1245R
p.L1245R
p.L1245R
p.L1245R
p.L1245R
15.28-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
GON4L     AU4462302chr1:
155812756-155812756
ATintronicDe novo--Yuen2017 G
GON4L     11060.p1 Complex Event; expand row to view variants  De novosynonymous SNVNM_001282856
NM_001282858
NM_001282860
NM_001282861
NM_032292
c.C3253T
c.C3253T
c.C3253T
c.C3253T
c.C3253T
p.L1085L
p.L1085L
p.L1085L
p.L1085L
p.L1085L
--Iossifov2014 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
GON4L     13400.p1chr1:
155792248-155792248
TGexonicDe novononsynonymous SNVNM_001282856
NM_001282858
NM_001282860
NM_001282861
NM_032292
c.A717C
c.A717C
c.A717C
c.A717C
c.A717C
p.E239D
p.E239D
p.E239D
p.E239D
p.E239D
15.2-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
GON4L     G01-GEA-222-HIchr1:
155730185-155730185
CGintronicDe novo--Satterstrom2020 E
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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