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Results for "MTTP"

Variant Events: 23

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
MTTP     AU3517302chr4:
100565098-100565098
CGintergenicDe novo--Yuen2017 G
MTTP     AU4089301chr4:
100678715-100678715
ATintergenicDe novo--Yuen2017 G
MTTP     74-0752chr4:
100503235-100503235
TGexonicInheritednonsynonymous SNVNM_001300785
NM_000253
c.T316G
c.T235G
p.L106V
p.L79V
15.28-Patowary2019 E
MTTP     3-0437-000chr4:
100597006-100597006
CTintergenicDe novo--Yuen2016 G
MTTP     1-0161-004chr4:
100687706-100687709
TCTATintergenicDe novo--Yuen2017 G
MTTP     1-0497-003chr4:
100541405-100541405
TCintronicDe novo--Yuen2017 G
MTTP     AU3906301chr4:
100581102-100581102
CTintergenicDe novo--Yuen2017 G
MTTP     12469.p1chr4:
100516022-100516022
CGexonicMosaicnonsynonymous SNVNM_001300785
NM_000253
c.C972G
c.C891G
p.H324Q
p.H297Q
0.0060.4028Dou2017 E
MTTP     AU060403chr4:
100671908-100671908
GTintergenicDe novo--Yuen2017 G
MTTP     10C104999chr4:
100573515-100573515
GAintergenicDe novo1.764-Satterstrom2020 E
MTTP     AU022203chr4:
100542308-100542308
GCexonicUnknownnonsynonymous SNVNM_001300785
NM_000253
c.G2514C
c.G2433C
p.L838F
p.L811F
14.140.0013Chahrour2012 E
MTTP     1-0520-003chr4:
100617824-100617824
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
MTTP     1-0404-003chr4:
100576127-100576132
ATTTTTATTTTTTintergenicDe novo--Yuen2017 G
MTTP     2-0309-005chr4:
100522628-100522628
AAGGGTTAAGintronicDe novo--Yuen2017 G
MTTP     AU3861303chr4:
100619179-100619179
GAintergenicDe novo--Yuen2017 G
MTTP     AU4392302chr4:
100680804-100680804
GAintergenicDe novo--Yuen2017 G
MTTP     1-0148-005chr4:
100629079-100629079
GAintergenicDe novo--Yuen2017 G
MTTP     653-04-102262chr4:
100574725-100574725
TTGintergenicDe novo--Satterstrom2020 E
MTTP     14153.p1chr4:
100708476-100708476
CTintergenicDe novo--Turner2016 G
MTTP     1-0494-003chr4:
100692457-100692457
CTintergenicDe novo--Yuen2017 G
MTTP     3-0432-000chr4:
100551768-100551768
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
MTTP     2-1230-003chr4:
100727834-100727834
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
MTTP     AU022203chr4:
100532602-100532602
GAexonicUnknownnonsynonymous SNVNM_001300785
NM_000253
c.G2062A
c.G1981A
p.G688S
p.G661S
7.4320.0245Chahrour2012 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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