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Results for "MCU"

Variant Events: 15

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
MCU     AU4033304chr10:
74526679-74526679
TAintronicDe novo--Yuen2017 G
MCU     PN400424chr10:
74645578-74645578
TAexonicUnknownstoplossNM_001270679
NM_001270680
NM_138357
c.T991A
c.T907A
c.T1054A
p.X331R
p.X303R
p.X352R
13.610.0032Leblond2019 E
MCU     AU0638302chr10:
74562486-74562486
GTintronicDe novo--Yuen2017 G
MCU     PN400312chr10:
74645578-74645578
TAexonicUnknownstoplossNM_001270679
NM_001270680
NM_138357
c.T991A
c.T907A
c.T1054A
p.X331R
p.X303R
p.X352R
13.610.0032Leblond2019 E
MCU     2-0289-003chr10:
74495069-74495069
GCintronicDe novo--Yuen2017 G
MCU     1-0246-005chr10:
74650307-74650307
GAintergenicDe novo--Yuen2017 G
MCU     7-0024-005chr10:
74471124-74471124
GAintronicDe novo--Yuen2017 G
MCU     11869.p1chr10:
74505955-74505955
AGintronicDe novo--Werling2018 G
MCU     1-0436-003chr10:
74529070-74529070
AGintronicDe novo--Yuen2016 G
Yuen2017 G
MCU     2-0278-003chr10:
74617008-74617008
TCintronicDe novo--Yuen2017 G
MCU     2-1644-003chr10:
74642873-74642873
CGintronicDe novo--Yuen2017 G
MCU     AU1933302chr10:
74626113-74626113
AGintronicDe novo--Yuen2017 G
MCU     2-0264-004chr10:
74596127-74596127
TGintronicDe novo--Yuen2017 G
MCU     PN400495chr10:
74645578-74645578
TAexonicUnknownstoplossNM_001270679
NM_001270680
NM_138357
c.T991A
c.T907A
c.T1054A
p.X331R
p.X303R
p.X352R
13.610.0032Leblond2019 E
MCU     20-0809320-17chr10:
74620239-74620239
GAexonicDe novosynonymous SNVNM_001270679
NM_001270680
NM_138357
c.G450A
c.G303A
c.G450A
p.K150K
p.K101K
p.K150K
--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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