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Results for "MCMDC2"

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
MCMDC2     MT_69chr8:
67813549-67813550
GGGexonicPaternalframeshift deletionNM_001136160
NM_001136161
NM_173518
c.1736delG
c.1736delG
c.1736delG
p.G579fs
p.G579fs
p.G579fs
--Toma2013 E
MCMDC2     7-0082-003chr8:
67824304-67824307
CCTTCintronicDe novo--Yuen2017 G
MCMDC2     iHART1290chr8:
67817486-67817486
CTexonicMaternalstopgainNM_001136160
NM_173518
c.C1795T
c.C1795T
p.R599X
p.R599X
26.38.946E-5Ruzzo2019 G
MCMDC2     iHART1432chr8:
67813504-67813504
GAexonicDe novononsynonymous SNVNM_001136160
NM_001136161
NM_173518
c.G1690A
c.G1690A
c.G1690A
p.G564S
p.G564S
p.G564S
28.4-Ruzzo2019 G
MCMDC2     iHART1433chr8:
67813504-67813504
GAexonicDe novononsynonymous SNVNM_001136160
NM_001136161
NM_173518
c.G1690A
c.G1690A
c.G1690A
p.G564S
p.G564S
p.G564S
28.4-Ruzzo2019 G
MCMDC2     A44chr8:
67809100-67809100
TCexonicDe novononsynonymous SNVNM_001136160
NM_001136161
NM_173518
c.T1532C
c.T1532C
c.T1532C
p.L511P
p.L511P
p.L511P
16.93-Jiao2019 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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