Variant Results

or

Results for "NAPRT"

Variant Events: 14

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

NAPRT

Uddin2014:45

chr8:
144659231-144659231

C

T

splicing

De novo

splicing

15.08

-

Uddin2014 E

NAPRT

AU3051303

chr8:
144659289-144659289

C

CCCGGCCA

exonic

Paternal

frameshift insertion

NM_001286829
NM_145201

c.626_627insTGGCCGG
c.626_627insTGGCCGG

p.G209fs
p.G209fs

-

Cirnigliaro2023 G

NAPRT

AU3051302

chr8:
144659289-144659289

C

CCCGGCCA

exonic

Paternal

frameshift insertion

NM_001286829
NM_145201

c.626_627insTGGCCGG
c.626_627insTGGCCGG

p.G209fs
p.G209fs

-

Cirnigliaro2023 G

NAPRT

mAGRE2888

chr8:
144658274-144658274

C

A

exonic

Paternal

stopgain

NM_001286829
NM_145201

c.G1081T
c.G1081T

p.E361X
p.E361X

14.88

9.162E-6

Cirnigliaro2023 G

NAPRT

AU2569303

chr8:
144657071-144657071

C

T

splicing

Maternal

splicing

21.1

-

Cirnigliaro2023 G

NAPRT

5-5164-003

chr8:
144660931-144660931

G

A

downstream;upstream

De novo

-

Trost2022 G
Trost2022 G

NAPRT

SP0207152

chr8:
144657508-144657508

T

G

exonic

De novo

synonymous SNV

NM_001286829
NM_145201

c.A1299C
c.A1299C

p.P433P
p.P433P

-

Trost2022 G

NAPRT

1-0629-003

chr8:
144659932-144659932

C

G

intronic

De novo

-

Yuen2017 G

NAPRT

SP0046030

chr8:
144657865-144657956

TCACTGCCCTGGGTGGGGAAGGGGGTGGCCGTGAGCCCAGCTGCCCTGGGTGGGGAAGGGGGTGGCACTGCCCTGGGTGGGGAAGGAGGTGG

T

exonic

De novo

frameshift deletion

NM_001286829
NM_145201

c.1108_1114del
c.1108_1114del

p.G370fs
p.G370fs

-

Fu2022 E

NAPRT

11356.p1

chr8:
144659231-144659231

C

T

splicing

De novo

splicing

15.08

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

NAPRT

iHART2888

chr8:
144658274-144658274

C

A

exonic

Paternal

stopgain

NM_001286829
NM_145201

c.G1081T
c.G1081T

p.E361X
p.E361X

14.88

9.162E-6

Ruzzo2019 G

NAPRT

iHART3050

chr8:
144659289-144659289

C

CCCGGCCA

exonic

Paternal

frameshift insertion

NM_001286829
NM_145201

c.626_627insTGGCCGG
c.626_627insTGGCCGG

p.G209fs
p.G209fs

-

Ruzzo2019 G

NAPRT

1-0841-003

chr8:
144659527-144659527

C

T

exonic

De novo

synonymous SNV

NM_001286829
NM_145201

c.G480A
c.G480A

p.G160G
p.G160G

-

Trost2022 G
Zhou2022 GE

NAPRT

iHART3051

chr8:
144659289-144659289

C

CCCGGCCA

exonic

Paternal

frameshift insertion

NM_001286829
NM_145201

c.626_627insTGGCCGG
c.626_627insTGGCCGG

p.G209fs
p.G209fs

-

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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