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Results for "NNT"

Variant Events: 45

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
NNT     PN400127chr5:
43613185-43613185
AAGexonicUnknownframeshift insertionNM_012343
NM_182977
c.328dupG
c.328dupG
p.A109fs
p.A109fs
-7.265E-5Leblond2019 E
NNT     AU056003chr5:
43684984-43684984
TCintronicDe novo--Yuen2017 G
NNT     AU0780301chr5:
43880872-43880872
TCintergenicDe novo--Yuen2017 G
NNT     2-1376-003chr5:
44282845-44282845
GAintergenicDe novo--Yuen2017 G
NNT     AU4015303chr5:
44175798-44175798
TCintergenicDe novo--Yuen2017 G
NNT     1-0358-003chr5:
44125712-44125712
TTGGAACAAintergenicDe novo--Yuen2017 G
NNT     1-0405-003chr5:
44125707-44125707
AGintergenicDe novo--Yuen2017 G
NNT     2-1429-003chr5:
44188700-44188700
TCintergenicDe novo--Yuen2017 G
NNT     2-1411-003chr5:
43731339-43731339
CCTTintergenicDe novo--Yuen2017 G
NNT     AU2950301chr5:
43670252-43670252
CTintronicDe novo--Yuen2017 G
NNT     2-1140-003chr5:
43700394-43700394
TCintronicDe novo--Yuen2017 G
NNT     AU3649304chr5:
44031499-44031499
CAintergenicDe novo--Yuen2017 G
NNT     2-1451-003chr5:
44026098-44026098
CCCTTGGCAAintergenicDe novo--Yuen2017 G
NNT     PN400359chr5:
43613185-43613185
AAGexonicUnknownframeshift insertionNM_012343
NM_182977
c.328dupG
c.328dupG
p.A109fs
p.A109fs
-7.265E-5Leblond2019 E
NNT     AU072504chr5:
43718349-43718349
CTintergenicDe novo--Yuen2017 G
NNT     PN400348chr5:
43613185-43613185
AAGexonicUnknownframeshift insertionNM_012343
NM_182977
c.328dupG
c.328dupG
p.A109fs
p.A109fs
-7.265E-5Leblond2019 E
NNT     PN400495chr5:
43613185-43613185
AAGexonicUnknownframeshift insertionNM_012343
NM_182977
c.328dupG
c.328dupG
p.A109fs
p.A109fs
-7.265E-5Leblond2019 E
NNT     5-0046-003chr5:
43857317-43857317
GTintergenicDe novo--Yuen2017 G
NNT     3-0018-000chr5:
43911769-43911769
GCintergenicDe novo--Yuen2017 G
NNT     7-0055-003chr5:
43672354-43672354
GAintronicDe novo--Yuen2017 G
NNT     AU012803chr5:
43647914-43647914
AGintronicDe novo--Yuen2017 G
NNT     2-1207-003chr5:
44240818-44240818
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
NNT     2-1594-003chr5:
43989897-43989897
ACintergenicDe novo--Yuen2017 G
NNT     PN400260chr5:
43613185-43613185
AAGexonicUnknownframeshift insertionNM_012343
NM_182977
c.328dupG
c.328dupG
p.A109fs
p.A109fs
-7.265E-5Leblond2019 E
NNT     PN400443chr5:
43613185-43613185
AAGexonicUnknownframeshift insertionNM_012343
NM_182977
c.328dupG
c.328dupG
p.A109fs
p.A109fs
-7.265E-5Leblond2019 E
NNT     AU3727302chr5:
43914369-43914369
GAintergenicDe novo--Yuen2017 G
NNT     AU3727302chr5:
43914372-43914372
GAintergenicDe novo--Yuen2017 G
NNT     2-0309-004chr5:
44125529-44125529
GAintergenicDe novo--Yuen2017 G
NNT     1-0458-003chr5:
44125707-44125707
AGintergenicDe novo--Yuen2017 G
NNT     2-1295-003chr5:
44042332-44042332
TCintergenicDe novo--Yuen2017 G
NNT     2-1239-003chr5:
43842767-43842767
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
NNT     1-0509-003chr5:
44176611-44176611
GAintergenicDe novo--Yuen2017 G
NNT     1-0222-003chr5:
43694842-43694842
GTintronicDe novo--Yuen2017 G
NNT     A22chr5:
44051407-44051407
CAintergenicDe novo--Wu2018 G
NNT     1-0556-003chr5:
44219211-44219211
CTintergenicDe novo--Yuen2017 G
NNT     1-0286-004chr5:
43963914-43963914
ACintergenicDe novo--Yuen2017 G
NNT     AU1988302chr5:
43850014-43850014
CTintergenicDe novo--Yuen2017 G
NNT     2-0028-003chr5:
43799037-43799037
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
NNT     AU3052303chr5:
43775134-43775134
CTintergenicDe novo--Yuen2017 G
NNT     PN400100chr5:
43613185-43613185
AAGexonicUnknownframeshift insertionNM_012343
NM_182977
c.328dupG
c.328dupG
p.A109fs
p.A109fs
-7.265E-5Leblond2019 E
NNT     1-0009-004chr5:
43800437-43800437
CTintergenicDe novo--Yuen2017 G
NNT     AU3806304chr5:
43727141-43727141
CTintergenicDe novo--Yuen2017 G
NNT     12381.p1chr5:
43676396-43676396
TTACTCintronicDe novo--Werling2018 G
NNT     2-0197-004chr5:
43963914-43963914
ACintergenicDe novo--Yuen2017 G
NNT     2-1336-003chr5:
43608873-43608873
CTintronicDe 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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