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Results for "MMS19"

Variant Events: 8

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
MMS19     11068.p1chr10:
99223622-99223622
AGexonicDe novosynonymous SNVNM_001289403
NM_001289404
NM_022362
NM_001289405
c.T1776C
c.T1428C
c.T1905C
c.T1905C
p.S592S
p.S476S
p.S635S
p.S635S
9.585-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
MMS19     1-0465-003achr10:
99254722-99254722
TCintronicDe novo--Yuen2017 G
MMS19     SSC00480chr10:
99223622-99223622
AGexonicDe novosynonymous SNVNM_001289403
NM_001289404
NM_022362
NM_001289405
c.T1776C
c.T1428C
c.T1905C
c.T1905C
p.S592S
p.S476S
p.S635S
p.S635S
9.585-Lim2017 E
MMS19     SSC08711chr10:
99219007-99219007
AGexonicDe novosynonymous SNVNM_001289403
NM_001289404
NM_022362
NM_001289405
c.T2808C
c.T2460C
c.T2937C
c.T2937C
p.H936H
p.H820H
p.H979H
p.H979H
7.162-Lim2017 E
MMS19     1-0354-006chr10:
99239097-99239097
AGintronicDe novo--Yuen2017 G
MMS19     1-0465-003chr10:
99254722-99254722
TCintronicDe novo--Yuen2017 G
MMS19     7-0197-003chr10:
99224480-99224480
ATintronicDe novo--Yuen2017 G
MMS19     13537.p1chr10:
99219007-99219007
AGexonicDe novosynonymous SNVNM_001289403
NM_001289404
NM_022362
NM_001289405
c.T2808C
c.T2460C
c.T2937C
c.T2937C
p.H936H
p.H820H
p.H979H
p.H979H
7.162-Krumm2015 E
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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