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Results for "NGDN"

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
NGDN     iHART1362chr14:
23944467-23944467
GTexonicMaternalstopgainNM_001042635
NM_015514
c.G232T
c.G232T
p.G78X
p.G78X
32.02.0E-4Ruzzo2019 G
NGDN     08C73727chr14:
23947252-23947252
TCUTR3De novo--Satterstrom2020 E
NGDN     iHART1360chr14:
23944467-23944467
GTexonicMaternalstopgainNM_001042635
NM_015514
c.G232T
c.G232T
p.G78X
p.G78X
32.02.0E-4Ruzzo2019 G
NGDN     iHART1361chr14:
23944467-23944467
GTexonicMaternalstopgainNM_001042635
NM_015514
c.G232T
c.G232T
p.G78X
p.G78X
32.02.0E-4Ruzzo2019 G
NGDN     AU4315302chr14:
23968433-23968433
GTintergenicDe novo--Yuen2017 G
NGDN     SP0050934chr14:
23938930-23938930
GAexonicDe novosynonymous SNVNM_001042635
NM_015514
c.G6A
c.G6A
p.A2A
p.A2A
--Fu2022 E
NGDN     5-0014-004chr14:
23942862-23942862
CCATGTTTAAintronicDe novo--Yuen2017 G
NGDN     5-0014-003chr14:
23942862-23942862
CCATGTTTAAintronicDe novo--Yuen2017 G
NGDN     1-0408-003 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
NGDN     1-0408-003chr14:
23977808-23977808
GAintergenicDe 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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