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Results for "NUDT14"

Variant Events: 6

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
NUDT14     AU1725302chr14:
105656438-105656438
TCintergenicDe novo--Yuen2017 G
NUDT14     14535.p1chr14:
105639351-105639354
TGGATUTR3De novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
NUDT14     AU3721301chr14:
105661463-105661463
CTintergenicDe novo--Yuen2017 G
NUDT14     iHART2918chr14:
105642925-105642926
TCTexonicMaternalframeshift deletionNM_177533c.373delGp.E125fs-1.689E-5Ruzzo2019 G
NUDT14     2-1629-003chr14:
105642984-105642984
GAexonicDe novosynonymous SNVNM_177533c.C315Tp.A105A-8.417E-6Yuen2017 G
NUDT14     iHART2916chr14:
105642925-105642926
TCTexonicMaternalframeshift deletionNM_177533c.373delGp.E125fs-1.689E-5Ruzzo2019 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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