or
or
Exact

Results for "GNPTG"

Variant Events: 12

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
GNPTG     2-1731-003chr16:
1402957-1402957
AGintronicDe novo--Yuen2017 G
GNPTG     AU4015302chr16:
1407761-1407761
GCintronicDe novo--Yuen2017 G
GNPTG     AU046708chr16:
1412509-1412509
CGexonicDe novononsynonymous SNVNM_032520c.C583Gp.L195V20.1-Yuen2017 G
GNPTG     37418chr16:
1412838-1412838
CTexonicDe novononsynonymous SNVNM_032520c.C754Tp.L252F16.03-Fu2022 E
GNPTG     SSC07799chr16:
1402258-1402258
GTexonicDe novononsynonymous SNVNM_032520c.G129Tp.L43F11.92-Fu2022 E
GNPTG     12252.p1 Complex Event; expand row to view variants  De novo--Iossifov2012 E
Iossifov2014 E
Iossifov2014 E
Kosmicki2017 E
Kosmicki2017 E
Satterstrom2020 E
GNPTG     14575.p1chr16:
1412838-1412838
CTexonicDe novononsynonymous SNVNM_032520c.C754Tp.L252F16.03-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
GNPTG     TAS_F7219Ychr16:
1402345-1402345
CGintronicDe novo--Satterstrom2020 E
GNPTG     Lim2017:37418chr16:
1412838-1412838
CTexonicDe novononsynonymous SNVNM_032520c.C754Tp.L252F16.03-Lim2017 E
GNPTG     SP0125708chr16:
1412855-1412855
AGexonicDe novosynonymous SNVNM_032520c.A771Gp.K257K--Fu2022 E
GNPTG     SP0074810chr16:
1412183-1412183
CAintronicDe novo--Fu2022 E
GNPTG     SP0085402chr16:
1413151-1413151
GAUTR3De novo--Fu2022 E
Source Variant Information

, -

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
More