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Results for "MST1R"

Variant Events: 6

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
MST1R     iHART2666chr3:
49929221-49929221
GAexonicMaternalstopgainNM_001244937
NM_002447
c.C3175T
c.C3322T
p.R1059X
p.R1108X
38.09.884E-5Ruzzo2019 G
MST1R     iHART1424chr3:
49934777-49934777
GAexonicMaternalstopgainNM_001244937
NM_002447
c.C2119T
c.C2119T
p.Q707X
p.Q707X
17.822.49E-5Ruzzo2019 G
MST1R     iHART2127chr3:
49934711-49934711
AGsplicingPaternalsplicing14.78-Ruzzo2019 G
MST1R     Lim2017:4905chr3:
49933686-49933686
TCexonicDe novononsynonymous SNVNM_001244937
NM_002447
c.A2591G
c.A2591G
p.H864R
p.H864R
6.143-Lim2017 E
MST1R     11472.p1chr3:
49933686-49933686
TCexonicDe novononsynonymous SNVNM_001244937
NM_002447
c.A2591G
c.A2591G
p.H864R
p.H864R
6.143-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
MST1R     iHART1342chr3:
49935646-49935646
TCsplicingMaternalsplicing19.127.523E-5Ruzzo2019 G
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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