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Results for "NMT2"

Variant Events: 10

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
NMT2     AU2139301chr10:
15204134-15204134
CTintronicDe novo--Yuen2017 G
NMT2     2-1277-003chr10:
15191257-15191257
CCACCATCATCACCATTATCATCACTGTCATCACCACTintronicDe novo--Yuen2017 G
NMT2     AU3506303chr10:
15148551-15148551
TGUTR3De novo--Yuen2017 G
NMT2     2-1292-004chr10:
15224635-15224635
TAintergenicDe novo--Yuen2017 G
NMT2     1-0104-003chr10:
15235708-15235708
CTintergenicDe novo--Yuen2017 G
NMT2     1-0455-004chr10:
15191257-15191257
CCATCATCACCACCATTACCATCATCATCACTGTCATCACCACTintronicDe novo--Yuen2017 G
NMT2     2-0296-004chr10:
15200650-15200650
AGintronicDe novo--Yuen2017 G
NMT2     SSC05173chr10:
15183471-15183471
ATexonicDe novononsynonymous SNVNM_001308295
NM_004808
c.T114A
c.T196A
p.S38R
p.S66T
14.97-Lim2017 E
NMT2     12539.p1chr10:
15183471-15183471
ATexonicDe novononsynonymous SNVNM_001308295
NM_004808
c.T114A
c.T196A
p.S38R
p.S66T
14.97-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
NMT2     2-1361-003chr10:
15168943-15168943
ATintronicDe novo--Yuen2017 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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