or
or
Exact

Results for "MAST2"

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
MAST2     2-1148-004chr1:
46358026-46358026
TCintronicDe novo--Yuen2017 G
MAST2     13964.p1chr1:
46296458-46296458
TGintronicDe novo--Turner2016 G
MAST2     AU2019302chr1:
46417357-46417357
TCintronicDe novo--Yuen2017 G
MAST2     G01-GEA-134-HIchr1:
46497134-46497134
GTexonicDe novononsynonymous SNVNM_015112c.G3064Tp.A1022S31.0-Satterstrom2020 E
MAST2     2-1112-003chr1:
46438850-46438850
AGintronicDe novo--Yuen2016 G
Yuen2017 G
MAST2     AU4496301chr1:
46343359-46343361
GTTGTintronicDe novo--Yuen2017 G
MAST2     2-1350-004chr1:
46450674-46450678
TAAACTintronicDe novo--Yuen2017 G
MAST2     2-1357-004chr1:
46421929-46421929
AGintronicDe novo--Yuen2017 G
MAST2     iHART1277chr1:
46496412-46496412
GAexonicPaternalstopgainNM_015112c.G2687Ap.W896X41.0-Ruzzo2019 G
MAST2     iHART2999chr1:
46499570-46499570
CTexonicPaternalstopgainNM_015112c.C3634Tp.R1212X44.08.325E-6Ruzzo2019 G
MAST2     iHART2131chr1:
46496749-46496749
CTexonicMaternalstopgainNM_015112c.C2779Tp.R927X42.01.679E-5Ruzzo2019 G
MAST2     AU3891302chr1:
46350372-46350372
TCintronicDe novo--Yuen2017 G
MAST2     1-0486-003chr1:
46271780-46271780
TAintronicDe novo--Yuen2017 G
MAST2     3-0396-000chr1:
46292702-46292702
AGintronicDe novo--Yuen2016 G
MAST2     13869.p1chr1:
46498050-46498050
GAexonicDe novononsynonymous SNVNM_015112c.G3388Ap.V1130I11.8-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
MAST2     AU1355301chr1:
46370026-46370026
AGintronicDe novo--Yuen2017 G
MAST2     DEASD_0048_001chr1:
46500523-46500523
GAexonicDe novosynonymous SNVNM_015112c.G4182Ap.A1394A-1.661E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
MAST2     DEASD_0426_001chr1:
46501219-46501219
AGexonicDe novosynonymous SNVNM_015112c.A4878Gp.A1626A--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
MAST2     iHART2997chr1:
46499570-46499570
CTexonicPaternalstopgainNM_015112c.C3634Tp.R1212X44.08.325E-6Ruzzo2019 G
MAST2     SSC09204chr1:
46498050-46498050
GAexonicDe novononsynonymous SNVNM_015112c.G3388Ap.V1130I11.8-Lim2017 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