Variant Results

or

or

Results for "CNPPD1"

Variant Events: 15

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

CNPPD1

11290.p1

chr2:
220041466-220041466

C

A

intronic

De novo

-

-

Satterstrom2020 E

CNPPD1

iHART2435

chr2:
220041017-220041017

G

A

exonic

Paternal

stopgain

NM_015680

c.C106T

p.R36X

37.0

-

Ruzzo2019 G

CNPPD1

08C76894

chr2:
220040411-220040411

G

A

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

CNPPD1

3097_18au

chr2:
220038971-220038971

G

A

intronic

De novo

-

Fu2022 E

CNPPD1

72-0745

chr2:
220039823-220039823

A

G

exonic

Inherited

nonsynonymous SNV

NM_015680

c.T268C

p.C90R

18.57

Patowary2019 E

CNPPD1

iHART2645

chr2:
220037475-220037475

T

TG

exonic

Maternal

frameshift insertion

NM_015680

c.1065dupC

p.N356fs

-

-

Ruzzo2019 G

CNPPD1

G01_GEA510HI

chr2:
220037201-220037201

G

C

UTR3

De novo

-

-

Fu2022 E

CNPPD1

iHART2436

chr2:
220041017-220041017

G

A

exonic

Paternal

stopgain

NM_015680

c.C106T

p.R36X

37.0

-

Ruzzo2019 G

CNPPD1

SSC02825

chr2:
220041466-220041466

C

A

intronic

De novo

-

-

Trost2022 G

CNPPD1

iHART2334

chr2:
220037322-220037323

CG

C

exonic

Maternal

frameshift deletion

NM_015680

c.1218delC

p.F406fs

-

Ruzzo2019 G

CNPPD1

mAGRE2436

chr2:
220041017-220041017

G

A

exonic

Paternal

stopgain

NM_015680

c.C106T

p.R36X

37.0

-

Cirnigliaro2023 G

CNPPD1

mAGRE2435

chr2:
220041017-220041017

G

A

exonic

Paternal

stopgain

NM_015680

c.C106T

p.R36X

37.0

-

Cirnigliaro2023 G

CNPPD1

mAGRE2645

chr2:
220037475-220037475

T

TG

exonic

Maternal

frameshift insertion

NM_015680

c.1065dupC

p.N356fs

-

-

Cirnigliaro2023 G

CNPPD1

mAGRE2334

chr2:
220037322-220037323

CG

C

exonic

Maternal

frameshift deletion

NM_015680

c.1218delC

p.F406fs

-

Cirnigliaro2023 G

CNPPD1

1360011

chr2:
220039750-220039750

A

T

exonic

De novo

stopgain

NM_015680

c.T341A

p.L114X

39.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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