Variant Results

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Results for "NCAPD3"

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

NCAPD3

A13

chr11:
134053340-134053340

G

A

intronic

De novo

-

-

Wu2018 G

NCAPD3

AU1274301

chr11:
134047092-134047092

C

G

intronic

De novo

-

-

Satterstrom2020 E

NCAPD3

AU4315302

chr11:
134094399-134094399

T

A

UTR5

De novo

-

-

Yuen2017 G

NCAPD3

AU3451301

chr11:
134033993-134033993

C

T

intronic

De novo

-

-

Yuen2017 G

NCAPD3

SP0006872

chr11:
134054582-134054582

C

T

exonic

De novo

nonsynonymous SNV

NM_015261

c.G2401A

p.A801T

0.049

Fu2022 E

NCAPD3

SP0048330

chr11:
134047119-134047119

A

C

exonic

De novo

nonsynonymous SNV

NM_015261

c.T3016G

p.L1006V

17.28

-

Fu2022 E

NCAPD3

SP0110353

chr11:
134093675-134093675

A

C

intronic

De novo

-

-

Fu2022 E

NCAPD3

AU3858302

chr11:
134052300-134052300

C

G

intronic

De novo

-

-

Yuen2017 G

NCAPD3

2-1362-004

chr11:
134032002-134032002

G

C

intronic

De novo

-

-

Yuen2017 G

NCAPD3

Hu2022:38

chr11:
134051019-134051019

T

C

exonic

Maternal

nonsynonymous SNV

NM_015261

c.A2512G

p.I838V

0.695

Hu2022 T

NCAPD3

7-0249-003

chr11:
134023587-134023587

C

T

intronic

De novo

-

-

Yuen2017 G

NCAPD3

Hu2022:38

chr11:
134022951-134022951

G

C

intronic

Paternal

-

Hu2022 T

NCAPD3

iHART2778

chr11:
134047142-134047142

G

GGA

exonic

Maternal

frameshift insertion

NM_015261

c.2992_2993insTC

p.T998fs

-

Ruzzo2019 G

NCAPD3

1-0479-006

chr11:
134029409-134029409

C

T

intronic

De novo

-

-

Yuen2017 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
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