Variant Results

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Results for "NUDT14"

Variant Events: 11

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

AU2427303

chr14:
105642925-105642926

TC

T

exonic

Maternal

frameshift deletion

NM_177533

c.373delG

p.E125fs

-

Cirnigliaro2023 G

NUDT14

AU2427301

chr14:
105642925-105642926

TC

T

exonic

Maternal

frameshift deletion

NM_177533

c.373delG

p.E125fs

-

Cirnigliaro2023 G

NUDT14

AU1725302

chr14:
105656438-105656438

T

C

intergenic

De novo

-

-

Yuen2017 G

NUDT14

36807

chr14:
105639351-105639354

TGGA

T

UTR3

De novo

-

-

Trost2022 G

NUDT14

3-0354-000

chr14:
105642843-105642843

A

G

intronic

De novo

-

-

Trost2022 G

NUDT14

DEASD_2161_001

chr14:
105639401-105639401

G

A

exonic

De novo

nonsynonymous SNV

NM_177533

c.C626T

p.S209L

0.092

Fu2022 E

NUDT14

14535.p1

chr14:
105639351-105639354

TGGA

T

UTR3

De novo

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

NUDT14

AU3721301

chr14:
105661463-105661463

C

T

intergenic

De novo

-

-

Yuen2017 G

NUDT14

iHART2918

chr14:
105642925-105642926

TC

T

exonic

Maternal

frameshift deletion

NM_177533

c.373delG

p.E125fs

-

Ruzzo2019 G

NUDT14

2-1629-003

chr14:
105642984-105642984

G

A

exonic

De novo

synonymous SNV

NM_177533

c.C315T

p.A105A

-

Yuen2017 G
Zhou2022 GE

NUDT14

iHART2916

chr14:
105642925-105642926

TC

T

exonic

Maternal

frameshift deletion

NM_177533

c.373delG

p.E125fs

-

Ruzzo2019 G

Source Variant Information

, -

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 notes	View
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